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†
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2011-08-18Author
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
dos Santos Silva, Isabel
Fletcher, Olivia
Johnson, Nichola
Sawyer, Elinor
Tomlinson, Ian
Kerin, Michael
Burwinkel, Barbara
Marme, Federik
Schneeweiss, Andreas
Sohn, Christof
Bojesen, Stig
Flyger, Henrik
Nordestgaard, Børge G.
Benítez, Javier
Milne, Roger L.
Ignacio Arias, Jose
Zamora, M. Pilar
Brenner, Hermann
Müller, Heiko
Arndt, Volker
Rahman, Nazneen
Turnbull, Clare
Seal, Sheila
Renwick, Anthony
Brauch, Hiltrud
Justenhoven, Christina
Brüning, Thomas
Chang-Claude, Jenny
Hein, Rebecca
Wang-Gohrke, Shan
Dörk, Thilo
Schürmann, Peter
Bremer, Michael
Hillemanns, Peter
Nevanlinna, Heli
Heikkinen, Tuomas
Aittomäki, Kristiina
Blomqvist, Carl
Bogdanova, Natalia
Antonenkova, Natalia
Rogov, Yuri I.
Karstens, Johann Hinrich
Bermisheva, Marina
Prokofieva, Darya
Hanafievich Gantcev, Shamil
Khusnutdinova, Elza
Lindblom, Annika
Margolin, Sara
Chenevix-Trench, Georgia
Beesley, Jonathan
Chen, Xiaoqing
Mannermaa, Arto
Kosma, Veli-Matti
Soini, Ylermi
Kataja, Vesa
Lambrechts, Diether
Yesilyurt, Betül T.
Chrisiaens, Marie-Rose
Peeters, Stephanie
Radice, Paolo
Peterlongo, Paolo
Manoukian, Siranoush
Barile, Monica
Couch, Fergus
Lee, Adam M.
Diasio, Robert
Wang, Xianshu
Giles, Graham G.
Severi, Gianluca
Baglietto, Laura
Maclean, Catriona
Offit, Ken
Robson, Mark
Joseph, Vijai
Gaudet, Mia
John, Esther M.
Winqvist, Robert
Pylkäs, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Andrulis, Irene
Knight, Julia A.
Marie Mulligan, Anna
O'Malley, Frances P.
Brinton, Louise A.
Sherman, Mark E.
Lissowska, Jolanta
Chanock, Stephen J.
Hooning, Maartje
Martens, John W.M.
van den Ouweland, Ans M.W.
Collée, J. Margriet
Hall, Per
Czene, Kamila
Cox, Angela
Brock, Ian W.
Reed, Malcolm W.R.
Cross, Simon S.
Pharoah, Paul
Dunning, Alison M.
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Ahn, Sei-Hyun
Jakubowska, Anna
Lubinski, Jan
Jaworska, Katarzyna
Durda, Katarzyna
Sangrajrang, Suleeporn
Gaborieau, Valerie
Brennan, Paul
McKay, James
Shen, Chen-Yang
Ding, Shian-ling
Hsu, Huan-Ming
Yu, Jyh-Cherng
Anton-Culver, Hoda
Ziogas, Argyrios
Ashworth, Alan
Swerdlow, Anthony
Jones, Michael
Orr, Nick
Trentham-Dietz, Amy
Egan, Kathleen
Newcomb, Polly
Titus-Ernstoff, Linda
Easton, Doug
Spurdle, Amanda B.
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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; dos Santos Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Burwinkel, Barbara; Marme, Federik; Schneeweiss, Andreas; Sohn, Christof; Bojesen, Stig; Flyger, Henrik; Nordestgaard, Børge G.; Benítez, Javier; Milne, Roger L.; Ignacio Arias, Jose; Zamora, M. Pilar; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Rahman, Nazneen; Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Brauch, Hiltrud; Justenhoven, Christina; Brüning, Thomas; Chang-Claude, Jenny; Hein, Rebecca; Wang-Gohrke, Shan; Dörk, Thilo; Schürmann, Peter; Bremer, Michael; Hillemanns, Peter; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia; Antonenkova, Natalia; Rogov, Yuri I.; Karstens, Johann Hinrich; Bermisheva, Marina; Prokofieva, Darya; Hanafievich Gantcev, Shamil; Khusnutdinova, Elza; Lindblom, Annika; Margolin, Sara; Chenevix-Trench, Georgia; Beesley, Jonathan; Chen, Xiaoqing; Mannermaa, Arto; Kosma, Veli-Matti; Soini, Ylermi; Kataja, Vesa; Lambrechts, Diether; Yesilyurt, Betül T.; Chrisiaens, Marie-Rose; Peeters, Stephanie; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Barile, Monica; Couch, Fergus; Lee, Adam M.; Diasio, Robert; Wang, Xianshu; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; Maclean, Catriona; Offit, Ken; Robson, Mark; Joseph, Vijai; Gaudet, Mia; John, Esther M.; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene; Knight, Julia A.; Marie Mulligan, Anna; O'Malley, Frances P.; Brinton, Louise A.; Sherman, Mark E.; Lissowska, Jolanta; Chanock, Stephen J.; Hooning, Maartje; Martens, John W.M.; van den Ouweland, Ans M.W.; Collée, J. Margriet; Hall, Per; Czene, Kamila; Cox, Angela; Brock, Ian W.; Reed, Malcolm W.R.; Cross, Simon S.; Pharoah, Paul; Dunning, Alison M.; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Shen, Chen-Yang; Ding, Shian-ling; Hsu, Huan-Ming; Yu, Jyh-Cherng; Anton-Culver, Hoda; Ziogas, Argyrios; Ashworth, Alan; Swerdlow, Anthony; Jones, Michael; Orr, Nick; Trentham-Dietz, Amy; Egan, Kathleen; Newcomb, Polly; Titus-Ernstoff, Linda; Easton, Doug; 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
Published Version
Abstract
A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.