The University of Queensland

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Walker, Logan C., Hoya, Miguel de la, Wiggins, George A R, Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B. and ClinGen Sequence Variant Interpretation Working Group (2023). Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American Journal of Human Genetics, 110 (7), 1046-1067. doi: 10.1016/j.ajhg.2023.06.002

The association between genetically elevated polyunsaturated fatty acids and risk of cancer

Tintle, Nathan, Rice, Terri, Cheng, Iona, Jenkins, Mark, Gallinger, Steve, Cornish, Alex J., Sud, Amit, Vijayakrishnan, Jayaram, Wrensch, Margaret, Johansson, Mattias, Norman, Aaron D., Klein, Alison, Clay-Gilmour, Alyssa, Franke, Andre, Ardisson Korat, Andres V., Wheeler, Bill, Nilsson, Björn, Smith, Caren, Heng, Chew-Kiat, Song, Ci, Riadi, David, Claus, Elizabeth B., Ellinghaus, Eva, Ostroumova, Evgenia, Hosnijeh,, de Vathaire, Florent, Cugliari, Giovanni, Matullo, Giuseppe, Oi-Lin Ng, Irene ... Martin, Richard M. (2023). The association between genetically elevated polyunsaturated fatty acids and risk of cancer. eBioMedicine, 91 104510. doi: 10.1016/j.ebiom.2023.104510

The association between genetically elevated polyunsaturated fatty acids and risk of cancer

Haycock, Philip C., Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N., Burgess, Stephen, Khankari, Nikhil K., Tsilidis, Konstantinos K., Gaunt, Tom R., Hemani, Gibran, Zheng, Jie, Truong, Therese, Birmann, Brenda M., O'Mara, Tracy, Spurdle, Amanda B., Iles, Mark M., Law, Matthew H., Slager, Susan L., Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Cotterchio, Michelle, Cerhan, James R., Peters, Ulrike, Enroth, Stefan, Gharahkhani, Puya, Le Marchand, Loic, Williams, Ann C., Block, Robert C., Amos, Christopher I., Hung, Rayjean J. ... Martin, Richard M. (2023). The association between genetically elevated polyunsaturated fatty acids and risk of cancer. EBioMedicine, 91, 1-13. doi: 10.1016/j.ebiom.2023.104510

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2023). Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. Human Genetics and Genomics Advances, 4 (2) 100185, 1-7. doi: 10.1016/j.xhgg.2023.100185

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Canson, Daffodil M., Davidson, Aimee L., de la Hoya, Miguel, Parsons, Michael T., Glubb, Dylan M., Kondrashova, Olga and Spurdle, Amanda B. (2023). SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion. Bioinformatics, 39 (4) btad179, 1-3. doi: 10.1093/bioinformatics/btad179

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Canson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2022). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 43 (12), 2328-2328. doi: 10.1002/humu.24500

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Chong, Belinda, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L. ... and on behalf of the Shariant Consortium (2022). Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. American Journal of Human Genetics, 109 (11), 1960-1973. doi: 10.1016/j.ajhg.2022.10.006

The splicing effect of variants at branchpoint elements in cancer genes

Canson, Daffodil M., Dumenil, Troy, Parsons, Michael T., O'Mara, Tracy A., Davidson, Aimee L., Okano, Satomi, Signal, Bethany, Mercer, Tim R., Glubb, Dylan M. and Spurdle, Amanda B. (2022). The splicing effect of variants at branchpoint elements in cancer genes. Genetics in Medicine, 24 (2), 398-409. doi: 10.1016/j.gim.2021.09.020

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Pope, Bernard J., Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan A., Jayasekara, Harindra, Joseland, Sharelle, Como, Julia, Preston, Susan, Spurdle, Amanda B., Macrae, Finlay A., Win, Aung K., Hopper, John L., Jenkins, Mark A., Winship, Ingrid M. and Buchanan, Daniel D. (2021). Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. Journal of Molecular Diagnostics, 23 (3), 358-371. doi: 10.1016/j.jmoldx.2020.12.003

The Impact of Variants at Branchpoint Splicing Elements in Cancer Genes

Canson, Daffodil, Dumenil, Troy, Parsons, Michael, O’Mara, Tracy, Davidson, Aimee , Okano, Satomi , Signal, Bethany , Mercer, Tim, Glubb, Dylan and Spurdle, Amanda (2021). The Impact of Variants at Branchpoint Splicing Elements in Cancer Genes. SSRN Electronic Journal, 24 (2), 398-409. doi: 10.2139/ssrn.3933049

Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer

Johnatty, Sharon E., Stewart, Colin J. R., Smith, Deborah, Nguyen, Anthony, O’ Dwyer, John, O’Mara, Tracy A., Webb, Penelope M. and Spurdle, Amanda B. (2020). Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer. Scientific Reports, 10 (1) 3621. doi: 10.1038/s41598-020-59916-1

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Canson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2020). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 41 (10) humu.24074, 1705-1721. doi: 10.1002/humu.24074

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels and Tavtigian, Sean V. (2019). A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine, 21 (7), 1486-1496. doi: 10.1038/s41436-018-0372-2

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Dadaev, Tokhir, Saunders, Edward J., Newcombe, Paul J., Anokian, Ezequiel, Leongamornlert, Daniel A., Brook, Mark N., Cieza-Borrella, Clara, Mijuskovic, Martina, Wakerell, Sarah, Olama, Ali Amin Al, Schumacher, Fredrick R., Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Goh, Chee, Sheng, Xin, Zhang, Zhuo, Muir, Kenneth, Govindasami, Koveela, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis, Thompson, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire ... The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium (2018). Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. Nature Communications, 9 (1) 2256. doi: 10.1038/s41467-018-04109-8

Heritable DNA methylation marks associated with susceptibility to breast cancer

Joo, Jihoon E., Dowty, James G., Milne, Roger L., Wong, Ee Ming, Dugué, Pierre-Antoine, English, Dallas, Hopper, John L., Goldgar, David E., Giles, Graham G., Southey, Melissa C., kConFab, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Saunders, Christobel, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deborah, Edkins, Edward ... Antill, Yoland (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer. Nature Communications, 9 (1) 867. doi: 10.1038/s41467-018-03058-6

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Painter, Jodie N., O'Mara, Tracy A., Morris, Andrew P., Cheng, Timothy H. T., Gorman, Maggie, Martin, Lynn, Hodson, Shirley, Jones, Angela, Martin, Nicholas G., Gordon, Scott, Henders, Anjali K, Attia, John, McEvoy, Mark, Holliday, Elizabeth G., Scott, Rodney J, Webb, Penelope M., Fasching, Peter A.., Beckmann, Matthias W, Ekici, Arif B, Hein, Alexander, Rübner, Matthias, Hall, Per, Czene, Kamila, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo, Lambrechts, Diether, Amant, Frederic ... Spurdle, Amanda B (2018). Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. Cancer Medicine, 7 (5), 1978-1987. doi: 10.1002/cam4.1445

ER and PR expression and survival after endometrial cancer

Smith, Deborah, Stewart, Colin J. R., Clarke, Edward M., Lose, Felicity, Davies, Claire, Armes, Jane, Obermair, Andreas, Brennan, Donal, Webb, Penelope M., Nagle, Christina M. and Spurdle, Amanda B. (2017). ER and PR expression and survival after endometrial cancer. Gynecologic Oncology, 148 (2), 258-266. doi: 10.1016/j.ygyno.2017.11.027

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling

Johnatty, Sharon E., Tan, Yen Y., Buchanan, Daniel D., Bowman, Michael, Walters, Rhiannon J., Obermair, Andreas, Quinn, Michael A., Blomfield, Penelope B., Brand, Alison, Leung, Yee, Oehler, Martin K., ANECS Group, Kirk, Judy A., O'Mara, Tracy A., Webb, Penelope M. and Spurdle, Amanda B. (2017). Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling. Gynecologic Oncology, 147 (2), 381-387. doi: 10.1016/j.ygyno.2017.08.011

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Dennis, Joe, Domchek, Susan M., Robson, Mark, Spurdle, Amanda B., Ramus, Susan J., Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L., Schmutzler, Rita Katharina, Simard, Jacques, Pharoah, Paul D.P., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Healey, Sue, Lush, Michael, Hamann, Ute, Southey, Melissa, John, Esther M., Chung, Wendy K., Daly, Mary B., Buys, Saundra S. ... Lester, Jenny (2017). Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institute, 109 (7) ARTN djw302. doi: 10.1093/jnci/djw302

Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study

Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I. ... Smith, George Davey (2017). Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study. JAMA Oncology, 3 (5), 636-651. doi: 10.1001/jamaoncol.2016.5945

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Day, Felix R., Thompson, Deborah J., Helgason, Hannes, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M., Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L., Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond ... Perry, John R. B. (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics, 49 (6), 834-841. doi: 10.1038/ng.3841

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Dörk, Thilo, Claes, Kathleen B.M., Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine ... Australian Ovarian Cancer Study Group (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS. Journal of Medical Genetics, 53 (12), 800-811. doi: 10.1136/jmedgenet-2016-103839

Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

Painter, Jodie N., O'Mara, Tracy A., Marquart, Louise, Webb, Penelope M., Attia, John, Medland, Sarah E., Cheng, Timothy, Dennis, Joe, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley V., Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Hein, Alexander, Rübner, Matthias, Czene, Kamila, Darabi, Hatef, Hall, Per, Li, Jingmei, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter ... Spurdle, Amanda B. (2016). Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 25 (11), 1503-1510. doi: 10.1158/1055-9965.EPI-16-0147

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

Painter, Jodie N., Kaufmann, Susanne, O'Mara, Tracy A., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., Spurdle, Amanda B. and Edwards, Stacey L. (2016). A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. American Journal of Human Genetics, 98 (6), 1159-1169. doi: 10.1016/j.ajhg.2016.04.012

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander ... Spurdle, Amanda B. (2016). Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 (6), 667-674. doi: 10.1038/ng.3562

Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R. M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex ... Chenevix-Trench, Georgia (2016). Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. American Journal of Human Genetics, 98 (5), 830-842. doi: 10.1016/j.ajhg.2016.03.001

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

Thompson, Deborah J., O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Folkerd, Elizabeth, Doody, Deborah, Dennis, Joe, Webb, Penelope M., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P., Maranian, Mel J., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen ... Spurdle, Amanda B. (2016). CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-Related Cancer, 23 (2), 77-91. doi: 10.1530/ERC-15-0386

RAD51B in familial breast cancer

Pelttari, Liisa M., Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I., Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V., Figueroa, Jonine, Pharoah, Paul D. P., Schmidt, Marjanka K., Dunning, Alison M., García-Closas, Montserrat, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L., Southey, Melissa C., Rosenberg, Efraim H., Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, Dos-Santos-silva, Isabel, Sawyer, Elinor J. ... Zeps, N. (2016). RAD51B in familial breast cancer. PLoS One, 11 (5) e0153788, e0153788. doi: 10.1371/journal.pone.0153788

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Dennis, Joe, Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Shah, Mitul, Ahmed, Shahana, Healey, Catherine S., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Duerst, Matthias, Runnebaum, Ingo, Hillemanns, Peter ... Spurdle, Amanda B. (2015). Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-Related Cancer, 22 (5), 851-861. doi: 10.1530/ERC-15-0319

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population

Alexander, Kimberley E., Chambers, Suzanne, Spurdle, Amanda B., Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy A., Gardiner, Robert A., Aitken, Joanne F., Clements, Judith A., Kedda, Mary-Anne and Janda, Monika (2015). Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population. Quality of Life Research, 24 (9), 2183-2193. doi: 10.1007/s11136-015-0950-6

Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Nead, Kevin T., Sharp, Stephen J., Thompson, Deborah J., Painter, Jodie N., Savage, David B., Semple, Robert K., Barker, Adam, Perry, John R. B., Attia, John, Dunning, Alison M., Easton, Douglas F., Holliday, Elizabeth, Lotta, Luca A., O'Mara, Tracy, McEvoy, Mark, Pharoah, Paul D. P., Scott, Rodney J., Spurdle, Amanda B., Langenberg, Claudia, Wareham, Nicholas J. and Scott, Robert A. (2015). Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. Journal of the National Cancer Institute, 107 (9) djv178, 1-7. doi: 10.1093/jnci/djv178

Prediction of individual genetic risk to prostate cancer using a polygenic score

Szulkin, Robert, Whitington, Thomas, Eklund, Martin, Aly, Markus, Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, ZSofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Borge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L. ... Wiklund, Fredrik (2015). Prediction of individual genetic risk to prostate cancer using a polygenic score. Prostate, 75 (13), 1467-1474. doi: 10.1002/pros.23037

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T. H. B. M., Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H. M., Fagerholm, Rainer, Heikkila, Paivi, Aittomaki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Phillips, Kelly-Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel ... Spurdle, Amanda (2015). Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis. BMC Medicine, 13 (1) 156, 1-11. doi: 10.1186/s12916-015-0392-6

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

Al Olama, Ali Amin, Benlloch, Sara, Antoniou, Antonis C., Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Pashayan, Nora, Pharoah, Paul D. P., Ostrander, Elaine A., Stanford, Janet L., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne K., Weischer, Maren, Nordestgaard, Borge G., Ingles, Sue A., Sorensen, Karina D., Orntoft, Torben F., Park, Jong Y., Cybulski, Cezary, Maier, Christiane, Doerk, Thilo ... Easton, Douglas F. (2015). Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiology Biomarkers and Prevention, 24 (7), 1121-1129. doi: 10.1158/1055-9965.EPI-14-0317

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Blein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Andres Conejero, Raquel, Segota, Ena ... Cox, David G. (2015). An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 17 (1) 61. doi: 10.1186/s13058-015-0567-2

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer

Stegeman, Shane, Moya, Leire, Selth, Luke A., Spurdle, Amanda B., Clements, Judith A. and Batra, Jyotsna (2015). A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer. Endocrine-Related Cancer, 22 (2), 265-276. doi: 10.1530/ERC-15-0013

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco I., Kuchenbaecker K., Cuadras D., Wang X., Barrowdale D., De Garibay G.R., Librado P., Sanchez-Gracia A., Rozas J., Bonifaci N., McGuffog L., Pankratz V.S., Islam A., Mateo F., Berenguer A., Petit A., Catala I., Brunet J., Feliubadalo L., Tornero E., Benitez J., Osorio A., Teresa R., Teresa C., Nevanlinna H., Aittomaki K., Arun B.K., Toland A.E., Karlan B.Y. ... Pujana M.A. (2015). Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE, 10 (4), 1-18. doi: 10.1371/journal.pone.0120020

Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Beesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley and Webb, Penelope M. (2015). Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Obstetrical and Gynecological Survey, 70 (3), 176-177. doi: 10.1097/OGX.0000000000000167

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Painter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L. ... Spurdle A.B. (2015). Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 24 (5), 1478-1492. doi: 10.1093/hmg/ddu552

Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium

Felix, Ashley S., Gaudet, Mia M., La Vecchia, Carlo, Nagle, Christina M., Shu, Xiao Ou, Weiderpass, Elisabete, Adami, Hans Olov, Beresford, Shirley, Bernstein, Leslie, Chen, Chu, Cook, Linda S., De Vivo, Immaculata, Doherty, Jennifer A., Friedenreich, Christine M., Gapstur, Susan M., Hill, Dierdre, Horn-Ross, Pamela L., Lacey, James V., Levi, Fabio, Liang, Xiaolin, Lu, Lingeng, Magliocco, Anthony, McCann, Susan E., Negri, Eva, Olson, Sara H., Palmer, Julie R., Patel, Alpa V., Petruzella, Stacey, Prescott, Jennifer ... Brinton, Louise A. (2015). Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium. International Journal of Cancer, 136 (5), E410-E422. doi: 10.1002/ijc.29229

Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)

Yang, H. P., Cook, L. S., Weiderpass, E., Adami, H. -O., Anderson, K. E., Cai, H., Cerhan, J. R., Clendenen, T. V., Felix, A. S., Friedenreich, C. M., Garcia-Closas, M., Goodman, M. T., Liang, X., Lissowska, J., Lu, L., Magliocco, A. M., McCann, S. E., Moysich, K. B., Olson, S. H., Petruzella, S., Pike, M. C., Polidoro, S., Ricceri, F., Risch, H. A., Sacerdote, C., Setiawan, V. W., Shu, X. O., Spurdle, A. B., Trabert, B. ... Brinton, L. A. (2015). Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2). British Journal of Cancer, 112 (5), 925-933. doi: 10.1038/bjc.2015.24

BRCA1 Circos: A visualisation resource for functional analysis of missense variants

Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C., Kessing, Bailey, Carvalho, Renato S., Whiley, Phillip, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Caputo, Sandrine M., Millot, Gael A., Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J., Pal, Tuya, van der Luijt, Rob B., Pena, Marta Santamarina, Neuhausen, Susan L., Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallee, Maxime, Couch, Fergus J., Tavtigian, Sean V., Glover, J. N. Mark, Carvalho, Marcelo A., Brody, Lawrence C., Sharan, Shyam K. and Monteiro, Alvaro N. (2015). BRCA1 Circos: A visualisation resource for functional analysis of missense variants. Journal of Medical Genetics, 52 (4), 224-230. doi: 10.1136/jmedgenet-2014-102766

Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

Peterlongo P., Chang-Claude J., Moysich K.B., Rudolph A., Schmutzler R.K., Simard J., Soucy P., Eeles R.A., Easton D.F., Hamann U., Wilkening S., Chen B., Rookus M.A., Schmidt M.K., Van Der Baan F.H., Spurdle A.B., Walker L.C., Lose F., Maia A.-T., Montagna M., Matricardi L., Lubinski J., Jakubowska A., Garcia E.B.G., Olopade O.I., Nussbaum R.L., Nathanson K.L., Domchek S.M., Rebbeck T.R. ... Friedman E. (2015). Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 24 (1), 308-316. doi: 10.1158/1055-9965.EPI-14-0532

Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Carvajal-Carmona, Luis G., O'Mara, Tracy A., Painter, Jodie N., Lose, Felicity A., Dennis, Joe, Michailidou, Kyriaki, Tyrer, Jonathan P., Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S., Pooley, Karen, Beesley, Jonathan, Cheng, Timothy, Jones, Angela, Howarth, Kimberley, Martin, Lynn, Gorman, Maggie, Hodgson, Shirley, Wentzensen, Nicholas, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Renner, Stefan P., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve ... Thompson, Deborah J. (2015). Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics, 134 (2), 231-245. doi: 10.1007/s00439-014-1515-4

Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Beesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley, Webb, Penelope M. and On behalf of the Australian National Endometrial Cancer Study Group (2015). Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Gynecologic Oncology, 136 (1), 87-93. doi: 10.1016/j.ygyno.2014.11.006

Most common 'sporadic' cancers have a significant germline genetic component

Lu, Yi, Ek, Weronica E., Whiteman, David, Vaughan, Thomas L., Spurdle, Amanda B., Easton, Douglas F., Pharoah, Paul D., Thompson, Deborah J., Dunning, Alison M., Hayward, Nicholas K., Chenevix-Trench, Georgia and Macgregor, Stuart (2014). Most common 'sporadic' cancers have a significant germline genetic component. Human Molecular Genetics, 23 (22), 6112-6118. doi: 10.1093/hmg/ddu312

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition

Moir-Meyer, Gemma L., Pearson, John F., Lose, Felicity, Scott, Rodney J., McEvoy, Mark, Attia, John, Holliday, Elizabeth G., Pharoah, Paul D., Dunning, Alison M., Thompson, Deborah J., Easton, Douglas F., Spurdle, Amanda B. and Walker, Logan C. (2014). Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Human Genetics, 134 (3), 269-278. doi: 10.1007/s00439-014-1507-4

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

Buchanan, Daniel D., Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B. and Win, Aung Ko (2014). Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Application of Clinical Genetics, 7, 183-193. doi: 10.2147/TACG.S48625

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

Al Olama, Ali Amin, Kote-Jarai, Zsofia, Berndt, Sonja I., Conti, David V., Schumacher, Fredrick, Han, Ying, Benlloch, Sara, Hazelett, Dennis J., Wang, Zhaoming, Saunders, Ed, Leongamornlert, Daniel, Lindstrom, Sara, Jugurnauth-Little, Sara, Dadaev, Tokhir, Tymrakiewicz, Malgorzata, Stram, Daniel O., Rand, Kristin, Wan, Peggy, Stram, Alex, Sheng, Xin, Pooler, Loreall C., Park, Karen, Xia, Lucy, Tyrer, Jonathan, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Yeager, Merideth ... Haiman, Christopher A. (2014). A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nature genetics, 46 (10), 1103-1109. doi: 10.1038/ng.3094

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

Thompson, B. A., Martins, A. and Spurdle, A. (2014). A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays. Clinical Genetics, 87 (2), 100-108. doi: 10.1111/cge.12450

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Colombo, Mara, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, Vecchi, Giovanna De, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D., Baralle, Diana, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo, Caldes, Trinidad, Walker, Logan, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo and de la Hoya, Miguel (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23 (14) ddu075, 3666-3680. doi: 10.1093/hmg/ddu075

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Thompson, Bryony A., Spurdle, Amanda B., Plazzer, John-Paul, Greenblatt, Marc S., Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capella, Gabriel, den Dunnen, Johan T., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian M., Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming ... Ward, Robyn (2014). Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, 46 (2), 107-115. doi: 10.1038/ng.2854

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Whiley, Phillip J., De La Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Sokilde Pedersen, Inge, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Chun Ding, Yuan, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava ... Brown, Melissa A. (2014). Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clinical Chemistry, 60 (2), 341-352. doi: 10.1373/clinchem.2013.210658

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2014). Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 (1) e86836, 1-10. doi: 10.1371/journal.pone.0086836

Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: A literature review

Metcalf, Alexander M. and Spurdle, Amanda B. (2014). Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: A literature review. Familial Cancer, 13 (1), 1-12. doi: 10.1007/s10689-013-9671-6

Genome-wide association study of endometrial cancer in E2C2

De Vivo, Immaculata, Prescott, Jennifer, Setiawan, Veronica Wendy, Olson, Sara H., Wentzensen, Nicolas, Attia, John, Black, Amanda, Brinton, Louise, Chen, Chu, Chen, Constance, Cook, Linda S., Crous-Bou, Marta, Doherty, Jennifer, Dunning, Alison M., Easton, Douglas F., Friedenreich, Christine M., Garcia-Closas, Montserrat, Gaudet, Mia M., Haiman, Christopher, Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Holliday, Elizabeth, Horn-Ross, Pamela L., Hunter, David J., Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Long, Jirong ... Kraft, Peter (2014). Genome-wide association study of endometrial cancer in E2C2. Human Genetics, 133 (2), 211-224. doi: 10.1007/s00439-013-1369-1

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

Schoeps A., Rudolph A., Seibold P., Dunning A.M., Milne R.L., Bojesen S.E., Swerdlow A., Andrulis I., Brenner H., Behrens S., Orr N., Jones M., Ashworth A., Li J., Cramp H., Connley D., Czene K., Darabi H., Chanock S.J., Lissowska J., Figueroa J.D., Knight J., Glendon G., Mulligan A.M., Dumont M., Severi G., Baglietto L., Olson J., Vachon C. ... Chang-Claude J. (2014). Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. Genetic Epidemiology, 38 (1), 84-93. doi: 10.1002/gepi.21771

Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in Australia

Tan, Yen Y., Spurdle, Amanda B. and Obermair, Andreas (2014). Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in Australia. Journal of Personalized Medicine, 4 (2), 218-244. doi: 10.3390/jpm4020218

Serum HE4 as a prognostic marker in endometrial cancer: a population based study

Brennan, Donal J., Hackethal, Andreas, Metcalf, Alex M., Coward, Jermaine, Ferguson, Kaltin, Oehler, Martin K., Quinn, Michael A., Janda, Monika, Leung, Yee, Freemantle, Michael, Webb, Penelope M., Spurdle, Amanda B., Obermair, Andreas, ANECS Group, Spurdle, A. B., Webb, P. M. and Young, J. (2014). Serum HE4 as a prognostic marker in endometrial cancer: a population based study. Gynecologic Oncology, 132 (1), 159-165. doi: 10.1016/j.ygyno.2013.10.036

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing

Buchanan, Daniel D., Tan, Yen Y., Walsh, Michael D., Clendenning, Mark, Metcalf, Alexander M., Ferguson, Kaltin, Arnold, Sven T., Thompson, Bryony A., Lose, Felicity A., Parsons, Michael T., Walters, Rhiannon J., Pearson, Sally-Ann, Cummings, Margaret, Oehler, Martin K., Blomfield, Penelope B., Quinn, Michael A., Kirk, Judy A., Stewart, Colin J., Obermair, Andreas, Young, Joanne P., Webb, Penelope M. and Spurdle, Amanda B. (2014). Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. Journal of Clinical Oncology, 32 (2), 90-100. doi: 10.1200/JCO.2013.51.2129

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

Walker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi, Giovanna, Radice, Paolo and Spurdle, Amanda B. (2013). Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Human Mutation, 34 (10), 1424-1431. doi: 10.1002/humu.22388

Impact of weight change and weight cycling on risk of different subtypes of endometrial cancer

Nagle, C. M., Marquart, L., Bain, C. J., O'Brien, S., Lahmann, P. H., Quinn, M., Oehler, M. K., Obermair, A., Spurdle, A. B. and Webb, P. M. (2013). Impact of weight change and weight cycling on risk of different subtypes of endometrial cancer. European Journal of Cancer, 49 (12), 2717-2726. doi: 10.1016/j.ejca.2013.03.015

Type I and II endometrial cancers: have they different risk factors?

Setiawan V.W., Yang H.P., Pike M.C., McCann S.E., Yu H., Xiang Y.B., Wolk A., Wentzensen N., Weiss N.S., Webb P.M., van den Brandt P.A., van de Vijver K., Thompson P.J., Australian National Endometrial Cancer Study Group, Strom B.L., Spurdle A.B., Soslow R.A., Shu X.O., Schairer C., Sacerdote C., Rohan T.E., Robien K., Risch H.A., Ricceri F., Rebbeck T.R., Rastogi R., Prescott J., Polidoro S., Park Y. ... Horn-Ross P.L. (2013). Type I and II endometrial cancers: have they different risk factors?. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 31 (20), 2607-2618. doi: 10.1200/JCO.2012.48.2596

Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness

Lose, Felicity, Batra, Jyotsna, O'Mara, Tracy, Fahey, Paul, Marquart, Louise, Eeeles, Ros A., Easton, Douglas F., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Rahman, Aneela A., Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Yaxley, John, Alexander, Kimberly, Clements, Judith A., Spurdle, Amanda B., Kedda, Mary-Anne and Australian Prostate Cancer BioResearch (2013). Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness. Urologic Oncology: Seminars and Original Investigations, 31 (5), 635-643. doi: 10.1016/j.urolonc.2011.05.011

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

Kote-Jarai, Zsofia, Saunders, Edward J., Leongamornlert, Daniel A., Tymrakiewicz, Malgorzata, Dadaev, Tokhir, Jugurnauth-Little, Sarah, Ross-Adams, Helen, Al Olama, Ali Amin, Benlloch, Sara, Halim, Silvia, Russel, Roslin, Dunning, Alison M., Luccarini, Craig, Dennis, Joe, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Ken, Giles, Graham G., Severi, Gianluca, Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindstrom, Sara, Kraft, Peter, Hunter, David J. ... Eeles, Rosalind A. (2013). Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Human Molecular Genetics, 22 (12), 2520-2528. doi: 10.1093/hmg/ddt086

Improving identification of lynch syndrome patients: A comparison of research data with clinical records

Tan, Yen Y., McGaughran, Julie, Ferguson, Kaltin, Walsh, Michael D., Buchanan, Daniel D., Young, Joanne P., Webb, Penelope M., Obermair, Andreas and Spurdle, Amanda B. (2013). Improving identification of lynch syndrome patients: A comparison of research data with clinical records. International Journal of Cancer, 132 (12), 2876-2883. doi: 10.1002/ijc.27978

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Bojesen, Stig E., Pooley, Karen A., Johnatty, Sharon E., Beesley, Jonathan, Michailidou, Kyriaki, Tyrer, Jonathan P., Edwards, Stacey L., Pickett, Hilda A., Shen, Howard C., Smart, Chanel E., Hillman, Kristine M., Mai, Phuong L., Lawrenson, Kate, Stutz, Michael D., Lu, Yi, Karevan, Rod, Woods, Nicholas, Johnston, Rebecca L., French, Juliet D., Chen, Xiaoqing, Weischer, Maren, Nielsen, Sune F., Maranian, Melanie J., Ghoussaini, Maya, Ahmed, Shahana, Baynes, Caroline, Bolla, Manjeet K., Wang, Qin, Dennis, Joe ... Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) (2013). Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45 (4), 371-384. doi: 10.1038/ng.2566

Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis

Neill, Annette S., Nagle, Christina M., Protani, Melinda M., Obermair, Andreas, Spurdle, Amanda B. and Webb, Penelope M. (2013). Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis. International Journal of Cancer, 132 (5), 1146-1155. doi: 10.1002/ijc.27717

Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis

Nagle, Christina M., Olsen, Catherine M., Ibiebele, Torukiri I., Spurdle, Amanda B., Webb, Penelope M., The Australian National Endometrial Cancer Study Group and The Australian Ovarian Cancer Study Group (2013). Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis. European Journal of Nutrition, 52 (2), 705-715. doi: 10.1007/s00394-012-0376-7

High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

Garcia-Dios, Diego A., Lambrechts, Diether, Coenegrachts, Lieve, Vandenput, Ingrid, Capoen, An, Webb, Penelope M., Ferguson, Kaltin, Akslen, Lars A., Claes, Bart, Vergote, Ignace, Moerman, Philippe, Van Robays, Johan, Marcickiewicz, Janusz, Salvesen, Helga B., Spurdle, Amanda B. and Amant, Frederic (2013). High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma. Gynecologic Oncology, 128 (2), 327-334. doi: 10.1016/j.ygyno.2012.11.037

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Thompson, Bryony A., Goldgar, David E., Paterson, Carol, Clendenning, Mark, Walters, Rhiannon, Arnold, Sven, Parsons, Michael T., Michael, D., Gallinger, Steven, Haile, Robert W., Hopper, John L., Jenkins, Mark A., LeMarchand, Loic, Lindor, Noralane M., Newcomb, Polly A., Thibodeau, Stephen N., Colon Cancer Family Registry, Young, Joanne P., Buchanan, Daniel D., Tavtigian, Sean V. and Spurdle, Amanda B. (2013). A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Human Mutation, 34 (1), 200-209. doi: 10.1002/humu.22213

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Al Olama, Ali Amin, Kote-Jarai, Zsofia, Schumacher, Fredrick R., Wiklund, Fredrik, Berndt, Sonja I., Benlloch, Sara, Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Hunter, David J., Henderson, Brian E., Thun, Michael J., Gaziano, Michael, Giovannucci, Edward L., Siddiq, Afshan, Travis, Ruth C., Cox, David G., Canzian, Federico, Riboli, Elio, Key, Timothy J., Andriole, Gerald, Albanes, Demetrius, Hayes, Richard B., Schleutker, Johanna, Auvinen, Anssi, Tammela, Teuvo L. J., Weischer, Maren ... Eeles, Rosalind A. (2013). A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Human Molecular Genetics, 22 (2) dds425, 408-415. doi: 10.1093/hmg/dds425

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

Thompson, B.A., Greenblatt, M.S., Vallee, M.P., Herkert, J.C., Tessereau, C., Young, E.L., Adzhubey, I.A., Li, B., Bell, R., Feng, B., Mooney, S.D., Radivojac, P., Sunyaev, S.R., Frebourg, T., Hofstra, R.M., Sijmons, R.H., Boucher, K., Thomas, A., Goldgar, D.E., Spurdle, A.B. and Tavtigian, S.V. (2013). Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Human Mutation, 34 (1), 255-265. doi: 10.1002/humu.22214

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Neils, Thompson, Bryony A., Marquart, Lousie, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, Warwick, Linda, Buchanan, Daniel D., Spurdle, Amanda B. and Australasian Colorectal Cancer Family Registry (2013). Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Molecular Carcinogenesis, 54 (7), 513-522. doi: 10.1002/mc.22116

Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Nickels S., Truong T., Hein R., Stevens K., Buck K., Behrens S., Eilber U., Schmidt M., Haberle L., Vrieling A., Gaudet M., Figueroa J., Schoof N., Spurdle A.B., Rudolph A., Fasching P.A., Hopper J.L., Makalic E., Schmidt D.F., Southey M.C., Beckmann M.W., Ekici A.B., Fletcher O., Gibson L., dos Santos Silva I., Peto J., Humphreys M.K., Wang J., Cordina-Duverger E. ... Webb P. (2013). Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors. PLoS Genetics, 9 (3) e1003284, e1003173-1-e1003173-15. doi: 10.1371/journal.pgen.1003284

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

Eeles R.A., Olama A.A.A., Benlloch S., Saunders E.J., Leongamornlert D.A., Tymrakiewicz M., Ghoussaini M., Luccarini C., Dennis J., Jugurnauth-Little S., Dadaev T., Neal D.E., Hamdy F.C., Donovan J.L., Muir K., Giles G.G., Severi G., Wiklund F., Gronberg H., Haiman C.A., Schumacher F., Henderson B.E., Le Marchand L., Lindstrom S., Kraft P., Hunter D.J., Gapstur S., Chanock S.J., Berndt S.I. ... Easton D.F. (2013). Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nature Genetics, 45 (4), 385-391. doi: 10.1038/ng.2560

Polymorphisms in inflammation pathway genes and endometrial cancer risk

Delahanty, R.J., Xiang, Y.-B., Spurdle, A., Beeghly-Fadiel, A., Long, J., Thompson, D., Tomlinson, I., Yu, H., Lambrechts, D., Dork, T., Goodman, M.T., Zheng, Y., Salvesen, H.B., Bao, P.-P., Amant, F., Beckmann, M.W., Coenegrachts, L., Coosemans, A., Dubrowinskaja, N., Dunning, A., Runnebaum, I.B., Easton, D., Ekici, A.B., Fasching, P.A., Halle, M.K., Hein, A., Howarth, K., Gorman, M., Kaydarova, D. ... Shu, X.-O. (2013). Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiology Biomarkers and Prevention, 22 (2), 216-223. doi: 10.1158/1055-9965.EPI-12-0903

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Stevens, K.N., Wang, X., Fredericksen, Z., Pankratz, V.S., Greene, M.H., Andrulis, I.L., Thomassen, M., Caligo, M., Nathanson, K.L., Jakubowska, A., Osorio, A., Hamann, U., Godwin, A.K., Stoppa-Lyonnet, D., Southey, M., Buys, S.S., Singer, C.F., Hansen, T.V.O., Arason, A., Offit, K., Piedmonte, M., Montagna, M., Imyanitov, E., Tihomirova, L., Sucheston, L., Beattie, M., Neuhausen, S.L., Szabo, C.I., Simard, J. ... Couch, F.J. (2012). Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Research and Treatment, 136 (1), 295-302. doi: 10.1007/s10549-012-2255-6

Genetic Association of the KLK4 Locus with Risk of Prostate Cancer

Lose, Felicity, Srinivasan, Srilakshmi, O'Mara, Tracy, Marquart, Louise, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Spurdle, Amanda B., Batra, Jyotsna, Clements, Judith A., the Australian Prostate Cancer BioResource and Samaratunga, Hema (2012). Genetic Association of the KLK4 Locus with Risk of Prostate Cancer. PLoS One, 7 (9) e44520, e44520-1-e44520-14. doi: 10.1371/journal.pone.0044520

A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

Ding, Yuan C., McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Shani-Paluch-Shimon, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Hakan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Ramony Cajal, Teresa, Stavropoulou, Alexandra V., Benitez, Javier, Hamann, Ute ... Neuhausen, Susan L. (2012). A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention, 21 (8), 1362-1370. doi: 10.1158/1055-9965.EPI-12-0229

Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium

Setiawan, Veronica Wendy, Pike, Malcolm C., Karageorgi, Stalo, Deming, Sandra L., Anderson, Kristin, Bernstein, Leslie, Brinton, Louise A., Cai, Hui, Cerhan, James R., Cozen, Wendy, Chen, Chu, Doherty, Jennifer, Freudenheim, Jo L., Goodman, Marc T., Hankinson, Susan E., Lacey, James V., Jr., Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Lurie, Galina, Mack, Thomas, Matsuno, Rayna K., McCann, Susan, Moysich, Kirsten B., Olson, Sara H., Rastogi, Radhai, Rebbeck, Timothy R., Risch, Harvey, Robien, Kim ... and the Australian National Endometrial Cancer Study Group (2012). Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium. American Journal of Epidemiology, 176 (4), 269-278. doi: 10.1093/aje/kws129

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Spurdle, Amanda B., Whiley, Phillip J., Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A., Pettigrew, Christopher, kConFab, Van Asperen, Christi J., Ausems, Margreet G. E. M., Kattentidt-Mouravieva, Anna A., Pigg, Maritta H., Schmutzler, Rita K., Engel, Christoph, Meindl, Alfons, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo, Sandrine, Sinilnikova, Olga M., Lidereau, Rosette, French COVAR group collaborators, Couch, Fergus J., Guidugli, Lucia, van Overeem Hansen, Thomas, Thomassen, Mads, Eccles, Diana M., Tucker, Kathy, Benitez, Javier, Domchek, Susan M., Toland, Amanda E. ... ENIGMA Consortium (2012). BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics, 49 (8), 525-532. doi: 10.1136/jmedgenet-2012-101037

Genetic Variants in ER Cofactor Genes and Endometrial Cancer Risk

Li, Yuqing, Low, Hui-Qi, Foo, Jia Nee, Darabi, Hatef, Einarsdottir, Kristjana, Humphreys, Keith, Spurdle, Amanda, Easton, Douglas F., Thompson, Deborah J., Dunning, Alison M., Pharoah, Paul D. P., Czene, Kamila, Chia, Kee Seng, Hall, Per and Liu, Jianjun (2012). Genetic Variants in ER Cofactor Genes and Endometrial Cancer Risk. Plos One, 7 (8), e42445-1-e42445-7. doi: 10.1371/journal.pone.0042445

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

Walker, Logan C., Krause, Lutz, kConFab Investigators, Spurdle, Amanda B. and Waddell, Nic (2012). Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours. Breast Cancer Research and Treatment, 134 (3), 1005-1011. doi: 10.1007/s10549-012-2024-6

Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

Brewster, Brooke L., Rossiello, Francesca, French, Juliet D., Edwards, Stacey L., Wong, Ming, Wronski, Ania, Whiley, Phillip, Waddell, Nic, Chen, Xiaowei, Bove, Betsy, kConFab, Hopper, John L., John, Esther M., Andrulis, Irene, Daly, Mary, Volorio, Sara, Bernard, Loris, Peissel, Bernard, Manoukian, Siranoush, Barile, Monica, Pizzamiglio, Sara, Verderio, Paolo, Spurdle, Amanda B., Radice, Paolo, Godwin, Andrew K., Southey, Melissa C., Brown, Melissa A. and Peterlongo, Paolo (2012). Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site. Human Mutation, 33 (12), 1665-1675. doi: 10.1002/humu.22159

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute ... Wyld, David (2012). Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. Plos One, 7 (6) ARTN e35706, e35706-1-e35706-10. doi: 10.1371/journal.pone.0035706

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer

Long, Jirong, Zheng, Wei, Xiang, Yong-Bing, Lose, Felicity, Thompson, Deborah, Tomlinson, Ian, Yu, Herbert, Wentzensen, Nicolas, Lambrechts, Diether, Dork, Thilo, Dubrowinskaja, Natalia, Goodman, Marc T., Salvesen, Helga B., Fasching, Peter A., Scott, Rodney J., Delahanty, Ryan, Zheng, Ying, O'Mara, Tracy, Healey, Catherine S., Hodgson, Shirley, Risch, Harvey, Yang, Hannah P., Amant, Frederic, Turmanov, Nurzhan, Schwake, Anita, Lurie, Galina, Trovik, Jone, Beckmann, Matthias W., Ashton, Katie ... Shu, Xiao-Ou (2012). Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 21 (6), 980-987. doi: 10.1158/1055-9965.EPI-11-1160

The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness

Lose, Felicity, Lawrence, Mitchell G., Srinivasan, Srilakshmi, O'Mara, Tracy, Marquart, Louise, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Spurdle, Amanda B., Batra, Jyotsna, Clements, Judith A. and Australian Prostate Canc BioResour (2012). The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness. Biological Chemistry, 393 (5), 403-412. doi: 10.1515/hsz-2011-0268

Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

Thomassen, Mads, Blanco, Ana, Montagna, Marco, Hansen, Thomas V. O., Pedersen, Inge S., Gutierrez-Enriquez, Sara, Menendez, Mireia, Fachal, Laura, Santamarina, Marta, Steffensen, Ane Y., Jønson, Lars, Agata, Simona, Whiley, Phillip, Tognazzo, Silvia, Tornero, Eva, Jensen, Uffe B., Balmana, Judith, Kruse, Torben A., Goldgar, David E., Lazaro, Conxi, Diez, Orland, Spurdle, Amanda B. and Vega, Ana (2012). Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members. Breast Cancer Research and Treatment, 132 (3), 1009-1023. doi: 10.1007/s10549-011-1674-0

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Couch, Fergus J., Gaudet, Mia M., Antoniou, Antonis C., Ramus, Susan J., Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Sinilnikova, Olga M., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A., Caligo, Maria A., von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans ... Simard, Jacques (2012). Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention, 21 (4), 645-657. doi: 10.1158/1055-9965.EPI-11-0888

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Parsons, Michael T., Buchanan, Daniel D., Thompson, Bryony, Young, Joanne P. and Spurdle, Amanda B. (2012). Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. Journal of Medical Genetics, 49 (3), 151-157. doi: 10.1136/jmedgenet-2011-100714

Use of talcum powder and endometrial cancer risk

Neill, Annette S., Nagle, Christina M., Spurdle, Amanda B. and Webb, Penelope M. (2012). Use of talcum powder and endometrial cancer risk. Cancer Causes and Control, 23 (3), 513-519. doi: 10.1007/s10552-011-9894-5

Correction: ABCB1 (MDR1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy

Johnatty, S. E., Beesley, J., Paul, J., Fereday, S., Spurdle, A. B. and Webb, P. M. (2012). Correction: ABCB1 (MDR1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy. Clinical Cancer Research, 18 (1), 319-320. doi: 10.1158/1078-0432.CCR-11-2827

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

Spurdle, Amanda B., Healey, Sue, Devereau, Andrew, Hogervorst, Frans B. L., Monteiro, Alvaro N. A., Nathanson, Katherine L., Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J., Goldgar, David E. and on behalf of ENIGMA (2012). ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutation, 33 (1), 2-7. doi: 10.1002/humu.21628

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Mavaddat, Nasim, Barrowdale, Daniel, Andrulis, Irene L., Domchek, Susan M., Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J., Spurdle, Amanda, Robson, Mark, Sherman, Mark, Mulligan, Anna Marie, Couch, Fergus J., Engel, Christoph, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M., Southey, Melissa C., Terry, Mary Beth, Goldgar, David, O'Malley, Frances, John, Esther M., Janavicius, Ramunas, Tihomirova, Laima, Hansen, Thomas V.O., Nielsen, Finn C., Osorio, Anna, Stavropoulou, Alexandra, Benitez, Javier, Manoukian, Siranoush ... Antoniou, Antonis C. (2012). Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology Biomarkers and Prevention, 21 (1), 134-147. doi: 10.1158/1055-9965.EPI-11-0775

A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population

Batra, Jyotsna, Lose, Felicity, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne, Yaxley, John, Clements, Judith A. and Spurdle, Amanda B. (2011). A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population. American Journal of Epidemiology, 174 (12), 1391-1395. doi: 10.1093/aje/kwr271

Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium

Figueroa, Jonine D., Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K., Broeks, Annegien, Tollenaar, Rob A. E. M., Van't Veer, Laura J., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Strick, Reiner, Peto, Julian, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik ... Spurdle, Amanda B. (2011). Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics, 20 (23), 4693-4706. doi: 10.1093/hmg/ddr368

Breast cancer susceptibility polymorphisms and endometrial cancer risk: a collaborative endometrial cancer study

Healey, Catherine S., Ahmed, Shahana, O'Mara, Tracy A., Ferguson, Kaltin, Lambrechts, Diether, Garcia-Dios, Diego A., Vergote, Ignace, Amant, Frederic, Howarth, Kimberley, Gorman, Maggie, Hodgson, Shirley, Tomlinson, Ian, Yang, Hannah P., Lissowska, Jolanta, Brinton, Louise A., Chanock, Stephen, Garcia-Closas, Montserrat, Hall, Per, Liu, Jianjun, Shah, Mitul, Pharoah, Paul D. P., Thompson, Deborah J., Rebbeck, Timothy R., Strom, Brian L., Dunning, Alison M., Easton, Douglas F., Spurdle, Amanda B., ANECS Group and Obermair, Andreas (2011). Breast cancer susceptibility polymorphisms and endometrial cancer risk: a collaborative endometrial cancer study. Carcinogenesis, 32 (12) bgr214, 1862-1866. doi: 10.1093/carcin/bgr214

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Cox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Ake, Karlsson, Per, Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benitez, Javier ... Sinilnikova, Olga M. (2011). Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human Molecular Genetics, 20 (23), 4732-4747. doi: 10.1093/hmg/ddr388

Gynecological conditions and the risk of endometrial cancer

Rowlands, Ingrid J., Nagle, Christina M., Spurdle, Amanda B. and Webb, Penelope M. (2011). Gynecological conditions and the risk of endometrial cancer. Gynecologic Oncology, 123 (3), 537-541. doi: 10.1016/j.ygyno.2011.08.022

Association between prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in australia and a meta-analysis of GWAS data

Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy, Marquart, Louise, Stephens, Carson, Alexander, Kimberly, Srinivasan, Srilakshmi, Eeles, Rosalind A., Easton, Douglas F., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Rahman, Aneela A, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne, Yaxley, John, Kedda, Mary-Anne, Clements, Judith A. and Spurdle, Amanda B. (2011). Association between prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in australia and a meta-analysis of GWAS data. PLoS One, 6 (11) e26527, e26527-1-e26527-8. doi: 10.1371/journal.pone.0026527

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Maxwell, Christopher A., Benitez, Javier, Gomez-Baldo, Laia, Osorio, Ana, Bonifaci, Nuria, Fernandez-Ramires, Ricardo, Costes, Sylvain V., Guino, Elisabet, Chen, Helen, Evans, Gareth J.R., Mohan, Pooja, Catala, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B., Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan ... Pujana, Miguel Angel (2011). Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biology, 9 (11), 1-18. doi: 10.1371/journal.pbio.1001199

Pancreatic Cancer and a Novel MSH2 Germline Alteration

Lindor, Noralane M., Petersen, Gloria M., Spurdle, Amanda B., Thompson, Bryony, Goldgar, David E. and Thibodeau, Stephen N. (2011). Pancreatic Cancer and a Novel MSH2 Germline Alteration. Pancreas, 40 (7), 1138-1140. doi: 10.1097/MPA.0b013e318220c217

CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk

O'Mara, Tracy A., Ferguson, Kaltin, Fahey, Paul, Marquart, Louise, Yang, Hannah P., Lissowska, Jolanta, Chanock, Stephen, Garcia-Closas, Montserrat, Thompson, Deborah J., Healey, Catherine S., Dunning, Alison M., Easton, Douglas F., ANECS, Webb, Penelope M., Spurdle, Amanda B. and Obermair, Andreas (2011). CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk. Twin Research and Human Genetics, 14 (4), 328-332. doi: 10.1375/twin.14.4.328

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antoniou, Antonis C., Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Jensen, Uffe Birk ... Chenevix-Trench, Georgia (2011). Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20 (16), 3304-3321. doi: 10.1093/hmg/ddr226

Kallikrein-Related Peptidase 3 (KLK3/PSA) Single Nucleotide Polymorphisms and Ovarian Cancer Survival

O'Mara, Tracy A., Nagle, Christina M., Batra, Jyotsna, Kedda, Mary-Anne, Clements, Judith A. and Spurdle, Amanda B. (2011). Kallikrein-Related Peptidase 3 (KLK3/PSA) Single Nucleotide Polymorphisms and Ovarian Cancer Survival. Twin Research and Human Genetics, 14 (4), 323-327. doi: 10.1375/twin.14.4.323

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium

Broeks, Annegien, Schmidt, Marjanka K., Sherman, Mark E., Couch, Fergus J., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Smith, Letitia D., Hammet, Fleur, Southey, Melissa C., Van 't Veer, Laura J., de Groot, Renate, Smit, Vincent T. H. B. M., Fasching, Peter A., Beckmann, Matthias W., Jud, Sebastian, Ekici, Arif B., Hartmann, Arndt, Hein, Alexander, Schulz-Wendtland, Ruediger, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sinn, Hans-Peter, Sohn, Christof, Tchatchou, Sandrine, Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik ... Garcia-Closas, Montserrat (2011). Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics, 20 (16), 3289-3303. doi: 10.1093/hmg/ddr228

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

Kote-Jarai, Zsofia, Al Olama, Ali Amin, Giles, Graham G, Severi, Gianluca, Schleutker, Johanna, Weischer, Maren, Campa, Daniele, Riboli, Elio, Key, Tim, Gronberg, Henrik, Hunter, David J., Kraft, Peter, Thun, Michael J, Ingles, Sue, Chanock, Stephen, Albanes, Demetrius, Hayes, Richard B,, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Pharoah, Paul, Schumacher, Fredrick, Henderson, Brian E., Stanford, Janet L., Ostrander, Elaine A., Sorensen, Karina Dalsgaard, Dork, Thilo, Andriole, Gerald, Dickinson, Joanne L ... Eeles, Rosalind A. (2011). Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nature Genetics, 43 (8), 785-791. doi: 10.1038/ng.882

Rare variants in the ATM gene and risk of breast cancer

Goldgar, David E., Healey, Sue, Dowty, James G., Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B., Terry, Mary B., Daly, Mary J., Buys, Saundra M., Southey, Melissa C., Andrulis, Irene, John, Esther M., Breast Cancer Family Registry, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Khanna, Kum K., Hopper, John L., Oefner, Peter J., Lakhani, Sunil and Chenevix-Trench, Georgia (2011). Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Research, 13 (4) R73, R73-1-R73-9. doi: 10.1186/bcr2919

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

Kote-Jarai, Z., Al Olama, A.A., Leongamornlert, D., Tymrakiewicz, M., Saunders, E., Guy, M., Giles, G.G., Severi, G., Southey, M., Hopper, J.L., Sit, K.C., Harris, J.M., Batra, J., Spurdle, A.B., Clements, J.A., Hamdy, F., Neal, D., Donovan, J., Muir, K., Pharoah, P.D.P., Chanock, S.J., Brown, N., Benlloch, S., Castro, E., Mahmud, N., O'Brien, L., Hall, A., Sawyer, E., Wilkinson, R. ... Eeles, R.A. (2011). Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript. Human Genetics, 129 (6), 687-694. doi: 10.1007/s00439-011-0981-1

Mutation deep within an intron of MSH2 causes Lynch syndrome

Clendenning, Mark, Buchanan, Daniel D., Walsh, Michael D., Nagler, Belinda, Rosty, Christophe, Thompson, Bryony, Spurdle, Amanda B., Hopper, John L., Jenkins, Mark A. and Young, Joanne P. (2011). Mutation deep within an intron of MSH2 causes Lynch syndrome. Familial Cancer, 10 (2), 297-301. doi: 10.1007/s10689-011-9427-0

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011). Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 (6), 678-687. doi: 10.1002/humu.21495

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Spurdle, Amanda B., Marquart, Louise, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Wan, Fei, Chen, Xiaoqing, Beesley, Jonathan, Singer, Christian F., Dressler, Anne-Catharine, Gschwantler-Kaulich, Daphne, Blum, Joanne L., Tung, Nadine, Weitzel, Jeff, Lynch, Henry, Garber, Judy, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Conroy, Don, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana ... Rebbeck, Timothy R. (2011). Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 20 (5), 1032-1038. doi: 10.1158/1055-9965.EPI-10-0909

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Spurdle, Amanda B., Thompson, Deborah J., Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S., O'Mara, Tracy, Walker, Logan C., Montgomery, Stephen B., Dermitzakis, Emmanouil T., The Australian National Endometrial Cancer Study Group, Fahey, Paul, Montgomery, Grant W., Webb, Penelope M., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Hein, Alexander, Lambrechts, Diether, Coenegrachts, Lieve, Vergote, Ignace, Amant, Frederic, Salvesen, Helga B., Trovik, Jone, Njolstad, Tormund S., Helland, Harald, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey ... Easton, Douglas F. (2011). Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nature Genetics, 43 (5), 451-454. doi: 10.1038/ng.812

A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival

Batra, Jyotsna, Nagle, Christina M., O'Mara, Tracy, Higgins, Melanie, Dong, Ying, Tan, Olivia L., Lose, Felicity, Skeie, Lene Marie, Srinivasan, Srilakshmi, Bolton, Kelly L., Song, Honglin, Ramus, Susan J., Gayther, Simon A., Pharoah, Paul D. P., Kedda, Mary-Anne, Spurdle, Amanda B. and Clements, Judith A. (2011). A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival. BMC Cancer, 11 (119) 119, 1-11. doi: 10.1186/1471-2407-11-119

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teule, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Vreeswijk, M., Waisfisz, Q., Van Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G. ... Benitez, J. (2011). Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. British Journal of Cancer, 104 (8), 1356-1361. doi: 10.1038/bjc.2011.91

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families

Duffy, David L., Antill, Yoland C., Stewart, Colin J., Young, Joanne R. and Spurdle, Amanda B. (2011). Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families. Twin Research and Human Genetics, 14 (2), 111-118. doi: 10.1375/twin.14.2.111

The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

Kaufman, Bella, Laitman, Yael, Ziv, Elad, Hamann, Ute, Torres, Diana, Lahad, Ephrat Levy, Beeri, Rachel, Renbaum, Paul, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Toloczko-Grabarek, Aleksandra, Jaworska, Katarzyna, Durda, Katarzyna, Spurdle, Amanda B., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Antonis, Antoniou, Szabo, Csilla and Friedman, Eitan (2011). The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 126 (2), 521-527. doi: 10.1007/s10549-010-1123-5

Progesterone receptor gene variants and risk of endometrial cancer

O'Mara, Tracy A., Fahey, Paul, Ferguson, Kaltin, Marquart, Louise, Lambrechts, Diether, Despierre, Evelyn, Vergote, Ignace, Amant, Frederic, Hall, Per, Liu, Jianjun, Czene, Kamila, SASBAC, Rebbeck, Timothy R., WISE Study Group, AOCS Management Group, SEARCH, Ahmed, Shahana, Dunning, Alison M., Gregory, Catherine S., Shah, Mitul, ANECS, Webb, Penelope M. and Spurdle, Amanda B. (2011). Progesterone receptor gene variants and risk of endometrial cancer. Carcinogenesis, 32 (3), 331-335. doi: 10.1093/carcin/bgq263

Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies

Yang, X.R., Chang-Claude, J., Goode, E.L., Couch, F.J., Nevanlinna, H., Milne, R.L., Gaudet, M., Schmidt, M.K., Broeks, A., Cox, A., Fasching, P.A., Hein, R., Spurdle, A.B., Blows, F., Driver, K., Flesch-Janys, D., Heinz, J., Sinn, P., Vrieling, A., Heikkinen, T., Aittomaki, K., Heikkila, P., Blomqvist, C., Lissowska, J., Peplonska, B., Chanock, S., Figueroa, J., Brinton, L., Hall, P. ... Garcia-Closas, M. (2011). Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies. Journal of the National Cancer Institute, 103 (3), 250-263. doi: 10.1093/jnci/djq526

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women

Beesley, Jonathan, Johnatty, Sharon E., Chen, Xiaoqing, Spurdle, Amanda B., Peterlongo, Paolo, Barile, Monica, Pensotti, Valeria, Manoukian, Siranoush, Radice, Paolo, Australian Ovarian Cancer Study Group, Kathleen Cuningham Consortium for Research in Familial Breast Cancer and Chenevix-Trench, Georgia (2011). No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women. Breast Cancer Research and Treatment, 126 (1), 235-239. doi: 10.1007/s10549-010-1292-2

The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women

Lurie, Galina, Gaudet, Mia M., Spurdle, Amanda B., Carney, Michael E., Wilkens, Lynne R., Yang, Hannah P., Weiss, Noel S., Webb, Penelope M., Thompson, Pamela J., Terada, Keith, Setiawan, Veronica Wendy, Rebbeck, Timothy R., Prescott, Jennifer, Orlow, Irene, O'Mara, Tracy, Olson, Sara H., Narod, Steven A., Matsuno, Rayna K., Lissowska, Jolanta, Liang, Xiaolin, Levine, Douglas A., Le Marchand, Loic, Kolonel, Laurence N., Henderson, Brian E., Garcia-Closas, Montserrat, Doherty, Jennifer Anne, De Vivo, Immaculata, Chen, Chu, Brinton, Louise A. ... Goodman, Marc T. (2011). The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women. PLoS One, 6 (2) e16756, e16756-1-e16756-8. doi: 10.1371/journal.pone.0016756

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord ... Lakhani, Sunil (2011). Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institiute, 103 (2), 105-116. doi: 10.1093/jnci/djq494

Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2

Mulligan, Anna Marie, Couch, Fergus J., Barrowdale, Daniel, Domchek, Susan M., Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J., Robson, Mark, Sherman, Mark, Spurdle, Amanda B., Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M., Janavicius, Ramunas, Hansen, Thomas V.O., Nielsen, Finn C., Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela ... Antoniou, Antonis C. (2011). Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research, 13 (6) R110, R110.1-R110.20. doi: 10.1186/bcr3052

Exploring the link between MORF4L1 and risk of breast cancer

Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kuehl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramirez, Maria J., Castella, Maria, Hernandez, Gonzalo, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona ... Angel Pujana, Miguel (2011). Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Research, 13 (2) R40. doi: 10.1186/bcr2862

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I., Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S., Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I., Zikan, Michal ... Easton, Douglas F. (2010). Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction. Cancer Research, 70 (23), 9742-9754. doi: 10.1158/0008-5472.CAN-10-1907

Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: An Australian case-control study

Fearnley, Emily J., Marquart, Louise, Spurdle, Amanda B., Weinstein, Philip, Webb, Penelope M., The Australian Ovarian Cancer Study Group, The Australian National Endometrial Cancer Study Group and Armes, Jane (2010). Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: An Australian case-control study. Cancer Causes and Control, 21 (12), 2303-2308. doi: 10.1007/s10552-010-9658-7

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Engel, Christoph, Versmold, Beatrix, Wappenschmidt, Barbara, Simard, Jacques, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Mayes, Rebecca, Evans, D. Gareth, Eeles, Rosalind, Paterson, Joan, Brewer, Carole, McGuffog, Lesley, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Barjhoux, Laure, Frenay, Marc, Michel, Cecile, Leroux, Dominique, Dreyfus, Helene, Toulas, Christine, Gladieff, Laurence, Uhrhammer, Nancy, Bignon, Yves-Jean, Meindl, Alfons, Arnold, Norbert ... Schmutzler, Rita K. (2010). Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 19 (11), 2859-2868. doi: 10.1158/1055-9965.EPI-10-0517

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki,Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey ... Lakhani, Sunil (2010). A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42 (10), 885-892. doi: 10.1038/ng.669

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segre, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti a. Rookus, J. Margriet Collee, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, HEBON Study Collaborators, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone ... Lakhani, Sunil (2010). Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genetics, 6 (10), e1001183-1-e1001183-12. doi: 10.1371/journal.pgen.1001183

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

Fletcher, Olivia, Johnson, Nichola, Silva, Isabel dos Santos, Orr, Nick, Ashworth, Alan, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomaki, Kristiina, Blomqvist, Carl, Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Schmutzler, Rita K., Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Hopper, John L., Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Schurmann, Peter, Waltes, Regina, Bremer Michael, Dork,Thilo ... Peto, Julian (2010). Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiology, Biomarkers and Prevention, 19 (9), 2143-2151. doi: 10.1158/1055-9965.EPI-10-0374

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Wang, Xianshu, Pankratz, V. Shane, Fredericksen, Zachary, Tarrell, Robert, Karaus, Mary, McGuffog, Lesley, Pharaoh, Paul D.P., Ponder, Bruce A.J., Dunning, Alison M., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, EMBRACE, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Houdayer, Claude, GEMO, Hogervorst, Frans B.L., Hooning, Maartje J., Ligtenberg, Marjolijn J., HEBON, Spurdle, Amanda, Chenevix-Trench, Georgia, kConFab, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph ... Lakhani, Sunil (2010). Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 19 (14), 2886-2897. doi: 10.1093/hmg/ddq174

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot"

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Macgregor, Stuart, Duffy, David L., Spurdle, Amanda B., deFazio, Anna, Gava, Natalie, Webb, Penelope M., Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Rossing, Mary Anne, Doherty, Jennifer Anne, Goodman, Marc T., Lurie, Galina, Thompson, Pamela J., Wilkens, Lynne R., Ness, Roberta B., Moysich, Kirsten B., Chang-Claude, Jenny, Wang-Gohrke, Shan, Cramer, Daniel W., Terry, Kathryn L., Hankinson, Susan E., Tworoger, Shelley S., Garcia-Closas, Montserrat, Yang, Hannah, Lissowska, Jolanta, Chanock, Stephen J. ... Ovarian Cancer Association Consortium (2010). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot". PLoS Genetics, 6 (7), e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016

Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity

Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2010). Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity. Human Mutation, 31 (6), E1484-E1505. doi: 10.1002/humu.21267

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

Whiley, Phillip J., Pettigrew, Christopher A., Brewster, Brooke L., Walker, Logan C., Spurdle, Amanda B. and Brown, Melissa A. (2010). Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Medical Genetics, 11 (1) 80, 80-1-80-5. doi: 10.1186/1471-2350-11-80

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Verderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C., Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Beesley, Jonathan, Australian Ovarian Cancer Study Group, kConFab, Schmutzler, Rita K., Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo and Peterlongo, Paolo (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47 (4), 268-270. doi: 10.1136/jmg.2009.073544

Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry

Walsh, MD, Buchanan, DD, Cummings, MC, Pearson, SA, Arnold, ST, Clendenning, M, Walters, R, McKeone, DM, Spurdle, AB, Hopper, JL, Jenkins, MA, Phillips, KD, Suthers, GK, George, J, Goldblatt, J, Muir, A, Tucker, K, Pelzer, E, Gattas, MR, Woodall, S, Parry, S, Macrae, FA, Haile, RW, Baron, JA, Potter, JD, Le Marchand, L, Bapat, B, Thibodeau, SN, Lindor, NM ... Young, JP (2010). Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry. Clinical Cancer Research, 16 (7), 2214-2224. doi: 10.1158/1078-0432.CCR-09-3058

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients

Walker, LC, Thompson, BA, Waddell, N, Grimmond, SM, Spurdle, AB and KConFab Investigators (2010). Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. PLoS Genetics, 6 (2) e1000850, e1000850-1-e1000850-9. doi: 10.1371/journal.pgen.1000850

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

Milne, Roger L., Gaudet, Mia M., Spurdle, Amanda B., Fasching, Peter A., Couch, Fergus J., Benitez, Javier, Arias Perez, Jose Ignacio, Zamora, M. Pilar, Malats, Nuria, dos Santos Silva, Isabel, Gibson, Lorna J., Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E., Lissowska, Jolanta, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Sigurdson, Alice J., Linet, Martha S., Schonfeld, Sara J., Freedman, D. Michal, Mannermaa, Arto, Kosma, Veli-Matti ... Lakhani, Sunil (2010). Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Research, 12 (6) R110, R110.1-R110.11. doi: 10.1186/bcr2797

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Walker, Logan C., Fredericksen, Zachary S., Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S., Lindor, Noralane M., Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, kConFab, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Mazoyer, Sylvie, Giraud, Sophie, Frickeer, Jean-Pierre, Muller, Daniele, Delnatte, Capucine, GEMO Study Collaborators, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Schonbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B., Verheus, Martijn, Hooning, Maartje J., van den Ouweland, Ans M. W., Nelen, Marcel R. ... Couch, Fergus J. (2010). Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 12 (6), R1020-1-R102-10. doi: 10.1186/bcr2785

Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010). Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 (1), 239-247. doi: 10.1007/s10549-008-0256-2

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

G Chenevix-Trench and Spurdle, Amanda B. (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). British Journal of Cancer Management, 101 (12), 2048-2054. doi: 10.1038/sj.bjc.6605416

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

Eeles, R. A., Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Guy, M., Severi, G., Muir, K., Hopper, J. L., Henderson, B. E., Haiman, C. A., Schleutker, J., Hamdy, F. C., Neal, D. E., Donovan, J. L., Stanford, J. L., Ostrander, E. A., Ingles, S. A., John, E. M., Thibodeau, S. N., Schaid, D., Park, J. Y., Spurdle, A., Clements, J., Dickinson, J. L., Maier, C., Vogel, W., Dork, T., Rebbeck, T. R., Cooney, K. A. ... Easton, D. F. (2009). Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nature Genetics, 41 (10), 1116-1121. doi: 10.1038/ng.450

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117 (2), 371-379. doi: 10.1007/s10549-008-0257-1

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B. and G Chenevix-Trench (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 101 (8), 1456-1460. doi: 10.1038/sj.bjc.6605279

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18 (22), 4442-4456. doi: 10.1093/hmg/ddp372

Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

Spurdle, Amanda B. and Chenevix-Trench, Georgia (2009). Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research, 69 (14), 5801-5810. doi: 10.1158/0008-5472.CAN-09-0625

Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042. National Cancer Institute. Journal, 101 (14), 1012-1018. doi: 10.1093/jnci/djp167

Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Spurdle, Amanda B., DeFazio, Anna, Webb, Penelope M. and Chenevix-Trench, Georgia (2009). Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium. Twin Research and Human Genetics, 12 (3), 269-275. doi: 10.1375/twin.12.3.269

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

Rebbeck, TR, Antoniou, AC, Llopis, TC, Nevanlinna, H, Aittomaki, K, Simard, J, Spurdle, A B. and Chenevix-Trench, Georgia (2009). No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Research and Treatment, 115 (1), 185-192. doi: 10.1007/s10549-008-0064-8

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B., Deans, AJ, Duffy, David and Georgia Chenevix-Trench (2009). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 115 (2), 307-313. doi: 10.1007/s10549-008-0083-5

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis

Chenevix-Trench, Georgia and Spurdle, Amanda B. (2009). The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis. Breast Cancer Research and Treatment, 115 (1), 145-150. doi: 10.1007/s10549-008-0045-y

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

Arnold, Sven, Buchanan, Daniel D., Barker, Melissa, Jaskowski, Lesley, Walsh, Michael D., Birney, Genevieve, Woods, Michael O., Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tavtigian, Sean V., Goldgar, David E., Young, Joanne P. and Spurdle, Amanda B. (2009). Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation, 30 (5), 757-770. doi: 10.1002/humu.20936

Association of ESR1 gene tagging SNPs with breast cancer risk

Dunning, A. M., Healey, C. S., Baynes, C., Maia, A. T., Scollen, S., Vega, A., Rodriguez, R., Barbosa-Morais, N. L., Ponder, B. A.J., Low, Y. L., Bingham, S., Haiman, C. A., Le Marchand, L., Broeks, A., Schmidt, M. K., Hopper, J., Southey, M., Beckmann, M. W., Fasching, P. A., Peto, J., Johnson, N., Bojesen, S. E., Nordestgaard, B., Milne, R. L., Benitez, J., Hamann, U., Ko, Y., Schmutzler, R. K., Burwinkel, B. ... Chenevix-Trench, G. (2009). Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18 (6), 1131-1139. doi: 10.1093/hmg/ddn429

The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women

Dowty, J. G., Lose, F., Jenkins, M. A., Chang, J. H., Chen, X. Q., Beesley, J., Dite, G. S., Southey, M. C., Byrnes, G. B., Tesoriero, A., Giles, G. G., ConFab Investigators, Australian Breast Cancer Family Study, Hooper, J. L. and Spurdle, A. B. (2008). The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women. Breast Cancer Research and Treatment, 112 (1), 35-39. doi: 10.1007/s10549-007-9832-0

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

Walker, Logan C., Waddell, Nic, Ten Haaf, Anette, kConFab Investigators, Grimmond, Sean and Spurdle, Amanda B. (2008). Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. Breast Cancer Research and Treatment, 112 (2), 229-236. doi: 10.1007/s10549-007-9848-5

Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1

Lose, Felicity, Duffy, David L., Kay, Graham F., Cuningham, Kathleen, Kedda, Mary A. and Spurdle, Amanda B. (2008). Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1. Journal of the National Cancer Institute, 100 (21), 1519-1529. doi: 10.1093/jnci/djn345

Lynch syndrome in women less than 50 years of age with endometrial cancer

Walsh, Michael D., Young, Joanne, Spurdle, Amanda and Obermair, Andreas (2008). Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstetrics and Gynecology, 112 (4), 943-943. doi: 10.1097/AOG.0b013e3181893013

ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy

Johnatty, Sharon E., Beesley, Jonathan, Paul, Jim, Fereday, Sian, Spurdle, Amanda B., Webb, Penelope M., Byth, Karen, Marsh, Sharon, McLeod, Howard, Harnett, Paul R., Brown, Robert, Defazio, Anna and Chenevix-Trench, Georgia (2008). ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy. Clinical Cancer Research, 14 (17), 5594-5601. doi: 10.1158/1078-0432.CCR-08-0606

Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium

Kote-Jarai, Zsofia, Easton, Douglas F., Stanford, Janet L., Ostrander, Elaine A., Schleutker, Johanna, Ingles, Sue A., Schaid, Daniel, Thibodeau, Stephen, Dork, Thilo, Neal, David, Cox, Angela, Maier, Christiane, Vogel, Walter, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Kedda, Mary-Anne, Spurdle, Amanda, Steginga, Suzanne, John, Esther M., Giles, Graham, Hopper, John, Chappuis, Pierre O., Hutter, Pierre, Foulkes, William D., Hamel, Nancy, Salinas, Claudia A., Koopmeiners, Joseph S., Karyadi, Danielle M. ... Eeles, Rosalind A. (2008). Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium. Cancer Epidemiology Biomarkers and Prevention, 17 (8), 2052-2061. doi: 10.1158/1055-9965.EPI-08-0317

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants

Pettigrew, Christopher A., Wayte, Nicola, Wronski, Ania, Lovelock, Paul K., Spurdle, Amanda B. and Brown, Melissa A. (2008). Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. Breast Cancer Research and Treatment, 110 (2), 227-234. doi: 10.1007/s10549-007-9714-5

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

Waddell, N, Ten Haaf, A, Marsh, A, Johnson, J, Walker, LC, Gongora, M, Brown, M, Grover, P, Girolami, M, Grimmond, S, Chenevix-Trench, G, Spurdle, AB and kConFab Investigators (2008). BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genetics, 4 (5) e1000080, Article Number: e1000080. doi: 10.1371/journal.pgen.1000080

Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis

Frank, Bernd, Wiestler, Miriam, Kropp, Silke, Hemminki, Kari, Spurdle, Amanda B., Sutter, Christian, Wappenschmidt, Barbara, Chen, Xiaoqing, Beesley, Jonathan, Hopper, John L., Meindl, Alfons, Kiechle, Marion, Slanger, Tracy, Bugert, Peter, Schmutzler, Rita K., Bartram, Claus R., Flesch-Janys, Dieter, Mutschelknauss, Elke, Ashton, Katie, Salazar, Ramona, Webb, Emily, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Bruening, Thomas, Silva, Isabel dos Santos, Johnson, Nichola, Pharoah, Paul P. D. ... Burwinkel, Barbara (2008). Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis. Journal of the National Cancer Institute, 100 (6), 437-442. doi: 10.1093/jnci/djn037

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab Investigators

Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., Da Silva, L. M., Brinkworth, R.I., Hopper, J.L., Brown, M.A., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D.E. (2008). Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab Investigators. Journal of Clinical Oncology, 26 (10), 1657-1663. doi: 10.1200/JCO.2007.13.2779

Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive Lynch Syndrome patients

Walsh, M. D., Cummings, M. C., Buchanan, D. D., Dambacher, W. M., Arnold, S., McKeone, D., Byrnes, R., Barker, M. A., Leggett, B. A., Gattas, M., Jass, J. R., Spurdle, A. B., Young, J. and Obermair, A. (2008). Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive Lynch Syndrome patients. Clinical Cancer Research, 14 (6), 1692-1700. doi: 10.1158/1078-0432.CCR-07-1849

RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies

Antoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Léoné, Mélanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valérie, Bignon, Yves-Jean, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, Olopade, Olufunmilayo I., Godwin, Andrew, Isaacs, Claudine, Jakubowska, Anna ... Chenevix-Trench, Georgia (2007). RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies. American Journal of Human Genetics, 81 (6), 1186-1200. doi: 10.1086/522611

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Lovelock, Paul K., Spurdle, Amanda B., Mok, Myth T. S., Farrugia, Daniel J., Lakhani, Sunil R., Healey, Sue, Arnold, Stephen, Buchanan, Daniel, kConFab Investigators, Couch, Fergus J., Henderson, Berik R., Goldgar, David E., Tavtigian, Sean V., Chenevix-Trench, Georgia and Brown, Melissa A (2007). Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?. Breast Cancer Research, 9 (6: R82) R82, 1-13. doi: 10.1186/bcr1826

Mutation analysis of five candidate genes in familial breast cancer

Marsh, Anna, Healey, Sue, Lewis, Aaron, Spurdle, Amanda B., Kedda, Mary Anne, Khanna, Kum Kum, Mann, Graham J., Pupo, Gulietta M., Lakhani, Sunil R. and Chenevix-Trench, Georgia (2007). Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Research & Treatment, 105 (3), 377-389. doi: 10.1007/s10549-006-9461-z

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Lovelock, Paul K., Wong, Ee Ming, Sprung, Carl N., Marsh, Anna, Hobson, Karen, French, Juliet D., Southey, Melissa, kConFab Investigators, Sculley, Tom, Pandeya, Nirmala, Brown, Melissa A., Chenevix-Trench, Georgia, Spurdle, Amanda B. and McKay, Michael J. (2007). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability. Breast Cancer Research and Treatment, 104 (3), 257-266. doi: 10.1007/s10549-006-9415-5

Genome-wide association study identifies novel breast cancer susceptibility loci

Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., Struewing, Jeffery P., Morrison, Jonathan, Field, Helen, Luben, Robert, Wareham, Nicholas, Ahmed, Shahana, Healey, Catherine S., Bowman, Richard, SEARCH collaborators, Meyer, Kerstin B., Haiman, Christopher A., Kolonel, Laurence K., Henderson, Brian E., Marchand, Loic Le, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Odefrey, Fabrice, Shen, Chen-Yang, Wu, Pei-Ei, Wang, Hui-Chun, Eccles Diana, Evans, D. Gareth ... Ward, Robyn (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447 (7148), 1087-1093. doi: 10.1038/nature05887

A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP

Pagan, Julia K., Arnold, Jeremy, Hanchard, Kim J., Kumar, Raman, Bruno, Tiziana, Jones, Mathew J.K., Richard, Derek J., Forrest, Alistair, Spurdle, Amanda, Verdin, Eric, Crossley, Merlin, Fanciulli, Maurizio, Chenevix-Trench, Georgia, Young, David B. and Khanna, Kum Kum (2007). A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP. Journal of Biological Chemistry, 282 (20), 15248-15257. doi: 10.1074/jbc.M700246200

PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility

Lai, John, Kedda, Mary-Anne, Hinze, Kimberley, Smith, Robert L. G., Yaxley, John, Spurdle, Amanda B., Morris, C. Phillip, Harris, Jonathan and Clements, Judith A. (2007). PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. Carcinogenesis, 28 (5), 1032-1039. doi: 10.1093/carcin/bgl236

A systematic approach to analysing gene-gene interactions: Polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk

Spurdle, Amanda B., Chang, Jiun-Horng, Byrnes, Graham B., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R.E., Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Hopper, John L. (2007). A systematic approach to analysing gene-gene interactions: Polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk. Cancer Epidemiology Biomarkers & Prevention, 16 (4), 769-774. doi: 10.1158/1055-9965.EPI-06-0776

Stability of BAT26 in Lynch syndrome colorectal tumours

Jaskowski, Lesley A., Young, Joanne, Jackson, Leigh, Arnold, Sven, Barker, Melissa A., Walsh, Michael D., Buchanan, Daniel D., Holman, Samantha, Mensink, Kara A., Jenkins, Mark A., Hopper, John L., Thibodeau, Stephen N., Jass, Jeremy R. and Spurdle, Amanda B. (2007). Stability of BAT26 in Lynch syndrome colorectal tumours. European Journal of Human Genetics, 15 (2), 139-141. doi: 10.1038/sj.ejhg.5201740

BCoR-L1 variation and breast cancer

Lose, Felicity, Arnold, Jeremy, Young, David B., Brown, Carolyn J., Mann, Graham J., Pupo, Gulietta M., Khanna, Kum Kum, Chenevix-Trench, Georgia and Spurdle, Amanda B. (2007). BCoR-L1 variation and breast cancer. Breast Cancer Research, 9 (4) R54, 1-12. doi: 10.1186/bcr1759

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

Lovelock P. K., Healey, S., Au, W., Sum, E, Y. M., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., kConFab Investigators, Tavtigian, S. V., Goldgar, D., Lindeman, G J ., Visvader, J. E., Couch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B. and Brown, M. A. (2006). Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics, 43 (1), 74-83. doi: 10.1136/jmg.2005.033258

Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical Significance

Chenevix-Trench, Georgia, Healey, Sue, Lakhani, Sunil, Waring, Paul, Cummings, Margaret, Brinkworth, Ross, Deffenbaugh, Amie M., Burbidge, Lynn Anne, Pruss, Dmitry, Judkins, Thad, Scholl, Tom, Bekessy, Anna, Marsh, Anna, Lovelock, Paul, Wong, Ming, Tesoriero, Andrea, Renard, Helene, Southey, Melissa, Hopper, John L., Yannoukakos, Koulis, Brown, Melissa, kConFab Investigators, Easton, Douglas, Tavtigian, Sean V., Goldgar, David and Spurdle, Amanda B. (2006). Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical Significance. Cancer Research, 66 (4), 2019-2027. doi: 10.1158/0008-5472.CAN-05-3546

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

Mann, Graham J., Thorne, Heather, Balleine, Rosemary L., Butow, Phyllis N., Clarke, Christine L., Edkins, Edward, Evans, Gerda M., Fereday, Sian, Hann, Eric, Gattas, Michael, Giles, Graham G., Goldblatt, Jack, Hopper, John L., Kirk, Judy, Leary, Jennifer A., Lindeman, Geoffrey, Niedermayr, Eveline, Phillips, Kelly-Anne, Picken, Sandra, Pupo, Gulietta M., Saunders, Christobel, Scott, Clare L., Spurdle, Amanda B., Suthers, Graeme, Tucker, Kathy and Chenevix-Trench, Georgia (2006). Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Research, 8 (1) R12. doi: 10.1186/bcr1377

The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B., Antoniou, Antonis C., Keleman, Livia, Holland, Helene, Peock, Susan, Cook, Margaret R., Smith, Paula L., Greene, Mark H., Simard, Jacques, Plourde, Marie, Southey, Melissa C., Godwin, Andrew K., Beck, Jeanne, Miron, Alexander, Daly, Mary B., Santella, Regina M., Hopper, John L., John, Esther M., Andrulis, Irene L., Durocher, Francine, Struewing, Jeffery P., Easton, Douglas F. and Chenevix-Trench, Georgia (2006). The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 15 (1), 76-79. doi: 10.1158/1055-9965.EPI-05-0709

Variation in the RAD51 gene and familial breast cancer

Lose, Felicity, Lovelock, Paul, Chenevix-Trench, Georgia, Mann, Graham J., Pupo, Gulietta M. and Spurdle, Amanda B. (2006). Variation in the RAD51 gene and familial breast cancer. Breast Cancer Research, 8 (3) R26, R26-1-R26-7. doi: 10.1186/bcr1415

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females

Medland, Sarah E., Duffy, David L., Spurdle, Amanda B., Wright, Margaret J., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2005). Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females. Behavior Genetics, 35 (6), 735-744. doi: 10.1007/s10519-005-6187-3

Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

Lewis, Aaron G., Flanagan, James, Marsh, Anna, Pupo, Gulietta M., Mann, Graham, Spurdle, Amanda B., Lindeman, Geoffrey J., Visvader, Jane E., Brown, Melissa A., Chenevix-Trench, Georgia and KConFab, Kathleen Cuningham Foundation (2005). Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Research, 7 (6) R1005, R1005-R1016. doi: 10.1186/bcr1336

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K., Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B. and Brown, Melissa A. (2005). Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Research, 7 (6), R929-R939. doi: 10.1186/bcr1324

Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk

Kuschel, Bettina, Chenevix- Trench, Georgia, Spurdle, Amanda B., Chen, Xiaoqing, Hopper, John L., Giles, Graham G., McCredie, Margret, Chang-Claude, Jenny, Gregory, Catherine S., Day, Nick E., Easton, Douglas F., Ponder, Bruce A. J., Dunning, Alison M. and Pharoah, Paul D. P. (2005). Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiology, Biomarkers and Prevention, 14 (7), 1828-1831. doi: 10.1158/1055-9965.EPI-04-0807

Two ATM variants and breast cancer risk

Thompson, Deborah, Antoniou, Antonis C., Jenkins, Mark, Marsh, Anna, Chen, Xiaoqing, Wayne, Tierney, Tesoriero, Andrea, Milne, Roger, Spurdle, Amanda, Thorstenson, Yvonne, Southey, Melissa, Giles, Graham G., kConFab Investigators,, Khanna, Kum Kum, Sambrook, Joseph, Oefner, Peter, Goldgar, David, Hopper, John L., Easton, Doug and Chenevix-Trench, Georgia (2005). Two ATM variants and breast cancer risk. Human Mutation, 25 (6), 594-595. doi: 10.1002/humu.9344

CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study

Chang, Jiun-Horng, Gertig, Dorota M., Chen, Xiaoqing, Dite, Gillian S., Jenkins, Mark A., Milne, Roger L., Southey, Melissa C., McCredie, Margaret R. E., Giles, Graham G., Chenevix-Trench, Georgia, Hopper, John L. and Spurdle, Amanda B. (2005). CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Research, 7 (4), R513-R521. doi: 10.1186/bcr1040

Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer

Webb, Penelope, Hopper, John L., Newman, Beth, Chen, Xiaoqing, Kelemen, Livia, Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Spurdle, Amanda B. (2005). Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer. Cancer Epidemiology Biomarkers and Prevention, 14 (2), 319-323. doi: 10.1158/1055-9965.EPI-04-0335

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals

Jekimovs, C. R., Chen, X., Arnold, J., Gatei, M., Richardson, D. J., kConFab Investigators, Spurdle, A. B., Khanna, K. K. and Chenevix-Trench, G. (2005). Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. British Journal Of Cancer, 92 (4), 784-790. doi: 10.1038/sj.bjc.6602381

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families

Tesoriero, A. A., Wong, E. M., Jenkins, M. A., Hopper, J. L., KConFab, K. C. F., Brown, M. A., Chenevix-Trench, G., Spurdle, A. B. and Southey, M. C. (2005). Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Human Mutation, 26 (5), 495-495. doi: 10.1002/humu.9379

RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women

Kelemen, Livia, Spurdle, Amanda B., Purdie, David M., Gertig, Dorota and Chenevix-Trench, Georgia (2005). RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women. Cancer Letters, 218 (2), 191-197. doi: 10.1016/j.canlet.2004.09.023

BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk

Auranen, Annika, Spurdle, Amanda B., Chen, Xiaoqing, Lipscombe, Julian, Purdie, David M., Hopper, John L., Green, Adele, Healey, Catherine S., Redman, Karen, Dunning, Alison M., Pharoah, Paul D., Easton, Douglas F., Ponder, Bruce A.J., Chenevix-Trench, Georgia and Novik, Karen L. (2003). BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk. International Journal of Cancer, 103 (3), 427-430. doi: 10.1002/ijc.10814

Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newman, Beth and Chenevix-Trench, Georgia (2002). Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women. Lancet, 360 (9337), 925-926. doi: 10.1016/S0140-6736(02)11043-9

The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Ellis-Steinborner, Sarah, Venter, Deon J., Newman, Beth, Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiology Biomarkers & Prevention, 11 (4), 413-416.

Dominant negative ATM mutations in breast cancer families

Chenevix-Trench, Georgia, Spurdle, Amanda B., Gatei, Magtouf, Kelly, Helena, Marsh, Anna, Chen, Xiaoqing, Donn, Karen, Cummings, Margaret C., Nyholt, Dale, Jenkins, Mark A., Scott, Clare, Pupo, Gulietta M., Dork, Thilo, Bendix, Regina, Kirk, Judy, Tucker, Katherine, McCredie, Margaret R. E., Hopper, John L., Sambrook, Joseph, Mann, Graham J. and Khanna, Kum Kum (2002). Dominant negative ATM mutations in breast cancer families. Journal of the National Cancer Institute, 94 (3), 205-215. doi: 10.1093/jnci/94.3.205

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newmann, Beth, Chenevix-Trench, Georgia and Khanna, KumKum (2002). No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Research, 4 (6) R15, R15/1-R15/6. doi: 10.1186/bcr534

The progesterone receptor exon 4 Va1660Leu G/T polymorphism and risk of breast cancer in Australian women

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The progesterone receptor exon 4 Va1660Leu G/T polymorphism and risk of breast cancer in Australian women. Cancer Epidemiology Biomarkers & Prevention, 11 (5), 439-443.

The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C., Purdie, David M. and Chenevix-Trench, Georgia (2001). The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiology, Biomarkers and Prevention, 10 (12), 1287-1293.

No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer

Spurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. Carcinogenesis, 22 (5), 717-721. doi: 10.1093/carcin/22.5.717

Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype

Spurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype. Carcinogenesis, 22 (1), 67-72. doi: 10.1093/carcin/22.1.67

The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia

Marsh, Anna, Spurdle, Amanda B., Turner, Bruce C., Fereday, Sian, Thorne, Heather, Pupo, Gulietta M., Mann, Graham J., Hopper, John L., Sambrook, Joseph F., Chenevix-Trench, Georgia, Australian Breast Canc Family Stud and K Cunningham Fdn Consortium Res Fa (2001). The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia. Breast Cancer Research, 3 (5) 346, 346-349. doi: 10.1186/bcr319

The microsomal epoxide hydrolase Tyr113His polymorphism: Association with risk of ovarian cancer

Spurdle, Amanda B., Purdie, David M., Webb, Penelope M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). The microsomal epoxide hydrolase Tyr113His polymorphism: Association with risk of ovarian cancer. Molecular Carcinogenesis, 30 (1), 71-78. doi: 10.1002/1098-2744(200101)30:1<71::AID-MC1015>3.0.CO;2-9

CYP17 promoter polymorphism and breast cancer in Australian women under age forty years

Spurdle, Amanda B., Hopper, John L., Dite, Gillian S, Chen, Xiaoqing, Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Southey, Melissa C., Venter, Deon J., Easton, Douglas F. and Chenevix-Trench, Georgia (2000). CYP17 promoter polymorphism and breast cancer in Australian women under age forty years. Journal of the National Cancer Institute, 92 (20), 1674-1681. doi: 10.1093/jnci/92.20.1674

CYP17 promotor polymorphism and ovarian cancer risk

Spurdle, Amanda B., Chen, Xiaoqing, Abbazadegan, Mohammed, Martin, Nicholas, Khoo, Soo-Keat, Hurst, Terry, Ward, Bruce, Webb, Penelope M. and Chenevix-Trench, Georgia (2000). CYP17 promotor polymorphism and ovarian cancer risk. International Journal of Cancer, 89 (2), 436-439.

Androgen receptor EXON 1 CAG repeat length and risk of ovarian cancer

Spurdle, A. B., Webb, P. M., Chen, X. D., Martin, N. G., Giles, G. G., Hopper, J. L. and Chenevix-Trench, G. (2000). Androgen receptor EXON 1 CAG repeat length and risk of ovarian cancer. International Journal of Cancer, 87 (5), 637-643. doi: 10.1002/1097-0215(20000901)87:5<637::AID-IJC3>3.0.CO;2-R

CYP17 promotor polymorphism and ovarian cancer risk

Spurdle, Amanda B., Chen, Xiaoqing, Abbazadegan, Mohammed, Martin, Nicholas, Khoo, Soo-Keat, Hurst, Terry, Ward, Bruce, Webb, Penelope M. and Chenevix-Trench, Georgia (2000). CYP17 promotor polymorphism and ovarian cancer risk. International Journal of Cancer, 86 (3), 436-439. doi: 10.1002/(SICI)1097-0215(20000501)86:3<436::AID-IJC21>3.0.CO;2-A

Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years

Spurdle, A. B., Dite, G. S., Chen, X. Q., Mayne, C. J., Southey, M. C., Batten, L. E., Chy, H., Trute, L, McCredie, M. R. E., Giles, G. G., Armes, J., Venter, D. J., Hopper, J. L. and Chenevix-Trench, G. (1999). Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years. Journal of the National Cancer Institute, 91 (11), 961-966. doi: 10.1093/jnci/91.11.961

Number of X-linked androgen receptor gene CAG repeats and femininity in women.

Loehlin, J. C., Spurdle, A. B., Treloar, S. A. and Martin, N. G. (1999). Number of X-linked androgen receptor gene CAG repeats and femininity in women.. Personality & Individual Differences, 27 (5), 887-899. doi: 10.1016/S0191-8869(99)00038-0

Evolutionary conservation analysis may help identify functional exonic splice enhancer motifs in BRCA1 and BRCA2

Brown, M. A., Chenevix-Trench, G., Lovelock, P. K., Pettigrew, C., Spurdle, A. B., Tavtigian, S. and Wayte, N. J. (2005). Evolutionary conservation analysis may help identify functional exonic splice enhancer motifs in BRCA1 and BRCA2. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005.

Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants

Chenevix-Trench, G., Healey, S. C., Lakhani, S., Brinkworth, R. I., KConFab, K. C. F., Marsh, A., Brown, M. A., Easton, D. F., Tavtigian, S., Goldgar, D. E. and Spurdle, A. B. (2005). Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005.

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability

Brown, M. A., Chenevix-Trench, G., French, J. D., Hobson, K., KConFab Investigators, Lovelock, P. K., Marsh, A., McKay, M., Pandeya, N., Sculley, T., Southey, M. C., Sprung, C. N., Spurdle, A. B. and Wong, E. M. (2005). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability. Familial Cancer 2005: Research and Practice, Couran Cove, 30 August - 3 September, 2005.