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Ghoussaini, M,Fletcher, O,Michailidou, K,Turnbull, C,Schmidt, MK,Dicks, E,Dennis, J,Wang, Q,Humphreys, MK,Luccarini, C,Baynes, C,Conroy, D,Maranian, M,Ahmed, S,Driver, K,Johnson, N,Orr, N,Silva, ID,Waisfisz, Q,Meijers-Heijboer, H,Uitterlinden, AG,Rivadeneira, F,Hall, P,Czene, K,Irwanto, A,Liu, JJ,Nevanlinna, H,Aittomaki, K,Blomqvist, C,Meindl, A,Schmutzler, RK,Muller-Myhsok, B,Lichtner, P,Chang-Claude, J,Hein, R,Nickels, S,Flesch-Janys, D,Tsimiklis, H,Makalic, E,Schmidt, D,Bui, M,Hopper, JL,Apicella, C,Park, DJ,Southey, M,Hunter, DJ,Chanock, SJ,Broeks, A,Verhoef, S,Hogervorst, FBL,Fasching, PA,Lux, MP,Beckmann, MW,Ekici, AB,Sawyer, E,Tomlinson, I,Kerin, M,Marme, F,Schneeweiss, A,Sohn, C,Burwinkel, B,Guenel, P,Truong, T,Cordina-Duverger, E,Menegaux, F,Bojesen, SE,Nordestgaard, BG,Nielsen,
2012
March
Nature Genetics
Genome-wide association analysis identifies three new breast cancer susceptibility loci
Published
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HORMONE-RELATED PROTEIN DEVELOPMENTAL REGULATORY MOLECULE ULNAR-MAMMARY SYNDROME PARATHYROID-HORMONE NEGATIVE-FEEDBACK COMMON VARIANTS CONFER SUSCEPTIBILITY GENE-EXPRESSION CELL CARCINOMA RETINOIC ACID
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Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for similar to 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in similar to 70,000 cases and similar to 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
10.1038/ng.1049
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