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2011 Journal Article Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive FamiliesDuffy, 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 |
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2011 Journal Article A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survivalBatra, 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 |
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2011 Journal Article The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriersKaufman, 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 |
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2011 Journal Article Progesterone receptor gene variants and risk of endometrial cancerO'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 |
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2011 Journal Article No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian womenBeesley, 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 |
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2011 Journal Article Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studiesYang, 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 |
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2011 Journal Article The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white womenLurie, 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 |
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2011 Journal Article Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriersRamus, 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 |
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2011 Journal Article 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 BRCA1/2Mulligan, 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 |
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2011 Journal Article Exploring the link between MORF4L1 and risk of breast cancerMartrat, 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 |
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2010 Journal Article Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: An Australian case-control studyFearnley, 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 |
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2010 Journal Article Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk predictionAntoniou, 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 |
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2010 Journal Article Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriersEngel, 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 |
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2010 Journal Article Common genetic variants and modification of penetrance of BRCA2-associated breast cancerMia 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 |
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2010 Journal Article 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 populationAntoniou, 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 |
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2010 Journal Article Missense variants in ATM in 26,101 breast cancer cases and 29,842 controlsFletcher, 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 |
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2010 Journal Article Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersWang, 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 |
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2010 Journal Article 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, e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016 |
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2010 Journal Article Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of PathogenicityWalker, 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 |
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2010 Journal Article Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcriptsWhiley, 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 |
