Honorary Professor Amanda Spurdle
Honorary Associate Professor
School of Biomedical Sciences
Journal Articles
Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Sahlberg, Kristine K., Børresen-Dale, Anne-Lise ... Spurdle, Amanda B. (2024). Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset. The American Journal of Human Genetics, 111 (9), 2059-2069. doi: 10.1016/j.ajhg.2024.07.004
Fortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S., Pesaran, Tina, Yussuf, Amal, Mester, Jessica L., Hruska, Kathleen S., Hiraki, Susan, O'Connor, Robert, Chan, Raymond C., Kim, Serra, Tavtigian, Sean, Goldgar, David, James, Paul A. and Spurdle, Amanda B. (2024). Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human Molecular Genetics, 33 (8), 724-732. doi: 10.1093/hmg/ddae009
Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L. ... Ward, Robyn L. (2023). The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study. Genome Medicine, 15 (1) 74, 1-16. doi: 10.1186/s13073-023-01223-1
Haycock, Philip C, Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N, Harrison, Sean, Burgess, Stephen, Chang, Xuling, Westra, Jason, Khankari, Nikhil K, Tsilidis, Kostas K, Gaunt, Tom, Hemani, Gibran, Zheng, Jie, Truong, Therese, O'Mara, Tracy A, Spurdle, Amanda B, Law, Matthew H, Slager, Susan L, Birmann, Brenda M, Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Amos, Christopher I, Hung, Rayjean J, Zheng, Wei, Gunter, Marc J, Davey Smith, George, Relton, Caroline and Martin, Richard M (2023). Design and quality control of large-scale two-sample Mendelian randomization studies. International Journal of Epidemiology, 52 (5), 1498-1521. doi: 10.1093/ije/dyad018
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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