Citations 14
Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
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JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
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Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747
Five Polymorphisms and Breast Cancer Risk: Results from the Breast Cancer Association Consortium
Gaudet, Mia M., Cox, Angela , Camp, Nicola J. , Goode, Ellen L. , Humphreys, Manjeet K., Dunning, Alison M. , Giles, Graham G. , Severi, Gianluca , Baglietto, Laura , English, Dallas R. , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Abbas, Sascha, Salazar, Ramona, Mannermaa, Arto, Kataja, Vesa , Kosma, Veli-Matti, Lindblom, Annika , Margolin, Sara , Heikkinen, Tuomas , Kämpjärvi, Kati, Aaltonen, Kirsimari, Nevanlinna, Heli , Bogdanova, Natalia , Coinac, Irina, Schürmann, Peter , Dörk, Thilo , Bartram, Claus R., Schmutzler, Rita K., Tchatchou, Sandrine, Burwinkel, Barbara , Brauch, Hiltrud , Torres, Diana , Hamann, Ute, Justenhoven, Christina , Ribas, Gloría , Flyger, Henrik L., Peto, Julian , Fletcher, Olivia , Johnson, Nichola , dos‐Santos‐Silva, Isabel , Fasching, Peter A. , Beckmann, Matthias W. , Strick, Reiner , Ekici, Arif B. , Schmidt, Marjanka K. , Leeuwen, Flora E. van , Veer, Laura J. van’t , Southey, Melissa C. , Hopper, John L. , Apicella, Carmel, Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N. , Kristensen, Vessela N. , Alnæs, Grethe Grenaker, Hunter, David J. , Cox, David G. , Hankinson, Susan E. , Seynaeve, Caroline, Tollenaar, Rob A.�E.�M. , Lissowska, Jolanta , Brinton, Louise A. , Pepłońska, Beata , Czene, Kamila , Li, Yuqing , Liu, Jianjun , Balasubramanian, Sabapathy P. , Rafii, Saeed , Reed, Malcolm , Pooley, Karen A. , Conroy, Don, Baynes, Caroline, Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Ahn, Sei-Hyun, Shen, Chen‐Yang , Wang, Hui‐Chun , Yu, Jyh-Cherng, Wu, Pei-Ei, Ziogoas, Argyrios, Egan, Kathleen M. , Titus‐Ernstoff, Linda, Dietz, Amy Trentham, Sigurdson, Alice J., Bhatti, Parveen , Allen‐Brady, Kristina , Cannon‐Albright, Lisa , Wong, Jathine , Group, Australian Ovarian Cancer Study, Chenevix‐Trench, Georgia , Spurdle, Amanda B. , Beesley, Jonathan, Easton, Doug , García‐Closas, Montserrat , Thorne, Heather , Li, Yuqing , Milne, Roger L. , Morrison, Jonathan J. , Couch, Fergus J. , Olson, Janet E. , Wang, Xianshu , Mannermaa, Arto, Arias, José Ignacio , Benı́tez, Javier , Bojesen, Stig E. , Nordestgaard, Børge G. , Flyger, Henrik, Broeks, Annegien , Marchand, Loı̈c Le , Kraft, Peter , Vreeswijk, Maaike P.G. , Devilee, Peter , Chanock, Stephen Jacob , Hall, Per N , Anton‐Culver, Hoda , Newcomb, Polly A. , Alexander, Bruce H. , Group, Australian Ovarian Cancer Study, Pharoah, Paul D.P. , Nevanlinna, H , Dörk, Thilo , Giles, Graham G , Spurdle, Amanda B , Lissowska, Jolanta , Southey, Melissa C , English, Dallas R , Cannon-Albright, Lisa A , Dunning, Alison M , Cox, Angela , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Bhatti, Parveen , Czene, Kamila , Rafii, Saeed , Baglietto, Laura , Fletcher, Olivia , Brauch, Hiltrud , Lindblom, Annika , Liu, Jing , Kang, Daehee
Cancer Epidemiology, Biomarkers & Prevention | May 7, 2009 | Volume: 18 | Issue: 5 | Pages: 1610-1616
Abstract Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent. (Cancer Epidemiol Biomarkers Prev 2009;18(5):1610–6)
AURKAF31I Polymorphism and Breast Cancer Risk inBRCA1andBRCA2Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Sinilnikova, Olga M., Vierkant, Robert A. , Fredericksen, Zachary S., Coupier, Isabelle, Hughes, David J. , Hardouin, Agnès, Berthet, Pascaline, Peock, Susan, Cook, Margaret , Baynes, Caroline, Hodgson, Shirley, Porteous, Mary, Jakubowska, Anna , Spurdle, Amanda B. , kConFab, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph , Meindl, Alfons , Sutter, Christian , Horst, Jürgen, Schaefer, Dieter, Offit, Kenneth, Kirchhoff, Tomas , Andrulis, Irene L. , Ilyushik, Eduard, Glendon, Gordon, Vasen, Hans F. A. , Borg, Åke , Backenhorn, Katja, Struewing, Jeffery P. , Greene, Mark H. , Nathanson, Katherine L. , Zikán, Michal , Foretová, Lenka , Sellers, Thomas A. , Lindor, Noralane M. , Nevanlinna, Heli , Tommiska, Johanna , Aittomäki, Kristiina, Hamann, Ute , Rashid, Muhammad Usman , Torres, Diana , Simard, Jacques , Durocher, Francine , Lynch, Henry T., Weitzel, Jeffrey N. , Olopade, Olufunmilayo I. , Narod, Steven A. , Daly, Mary B., Easton, Douglas F., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Evans, D. Gareth , Thorne, Heather , Couch, Fergus J. , Pankratz, V. Shane , Stoppa‐Lyonnet, Dominique , Morrison, Patrick J. , Lubiński, Jan , Gronwald, Jacek , kConFab, Meindl, Alfons , Devilee, Peter , Vreeswijk, Maaike P.G. , Neuhausen, Susan L. , Rebbeck, Timothy R. , Domchek, Susan M. , Wagner, Theresa Maria , Garber, Judy E. , Szabo, Csilla I. , Olson, Janet E. , Guénard, Frédéric , Isaacs, Claudine , Godwin, Andrew K. , Tomlinson, Gail Elizabeth , Nevanlinna, H , Spurdle, Amanda B , Vierkant, Robert A , Weitzel, Jeffrey N , Evans, D Gareth , Olopade, Olufunmilayo I , Jakubowska, Anna , Torres, Diana , Nathanson, Katherine L , Engel, Christoph , Simard, Jacques , Chenevix-Trench, Georgia , Rashid, Muhammad U , Hughes, David J
Cancer Epidemiology, Biomarkers & Prevention | July 12, 2007 | Volume: 16 | Issue: 7 | Pages: 1416-1421
AbstractThe AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.06]. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% CI, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers. (Cancer Epidemiol Biomarkers Prev 2007;16(7):1416–21)