Genome-wide association analysis identifies three new breast cancer susceptibility loci.
; Waisfisz, Q; Meijers-Heijboer, H; Uitterlinden, AG; Rivadeneira, F; Netherlands Collaborative Group on Hereditary Breast and Ovarian; Hall, P; Czene, K; Irwanto, A; Liu, J; Nevanlinna, H; Aittomäki, K; Blomqvist, C; Meindl, A; Schmutzler, RK; Müller-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, FB; Fasching, PA; Lux, MP; Beckmann, MW; Ekici, AB; Sawyer, E; Tomlinson, I; Kerin, M; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Guénel, P; Truong, T; Cordina-Duverger, E; Menegaux, F; Bojesen, SE; Nordestgaard, BG; Nielsen, SF; Flyger, H; Milne, RL; Alonso, MR; González-Neira, A; Benítez, J; Anton-Culver, H; Ziogas, A; Bernstein, L; Dur, CC; Brenner, H; Müller, H; Arndt, V; Stegmaier, C; Familial Breast Cancer Study (FBCS); Justenhoven, C; Brauch, H; Brüning, T; Gene Environment Interaction of Breast Cancer in Germany (GENICA; Wang-Gohrke, S; Eilber, U; Dörk, T; Schürmann, P; Bremer, M; Hillemanns, P; Bogdanova, NV; Antonenkova, NN; Rogov, YI; Karstens, JH; Bermisheva, M; Prokofieva, D; Khusnutdinova, E; Lindblom, A; Margolin, S; Mannermaa, A; Kataja, V; Kosma, V; Hartikainen, JM; Lambrechts, D; Yesilyurt, BT; Floris, G; Leunen, K; Manoukian, S; Bonanni, B; Fortuzzi, S; Peterlongo, P; Couch, FJ; Wang, X; Stevens, K; Lee, A; Giles, GG; Baglietto, L; Severi, G; McLean, C; Alnaes, GG; Kristensen, V; Børrensen-Dale, A; John, EM; Miron, A; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Kauppila, S; Andrulis, IL; Glendon, G; Mulligan, AM; Devilee, P; van Asperen, CJ; Tollenaar, RA; Seynaeve, C; Figueroa, JD; Garcia-Closas, M; Brinton, L; Lissowska, J; Hooning, MJ; Hollestelle, A; Oldenburg, RA; van den Ouweland, AM; Cox, A; Reed, MW; Shah, M; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Jones, M; Schoemaker, M; Ashworth, A; Swerdlow, A; Beesley, J; Chen, X; kConFab Investigators; Australian Ovarian Cancer Study Group; Muir, KR; Lophatananon, A; Rattanamongkongul, S; Chaiwerawattana, A; Kang, D; Yoo, K; Noh, D; Shen, C; Yu, J; Wu, P; Hsiung, C; Perkins, A; Swann, R; Velentzis, L; Eccles, DM; Tapper, WJ; Gerty, SM; Graham, NJ; Ponder, BA; Chenevix-Trench, G; Pharoah, PD; Lathrop, M; Dunning, AM; Rahman, N; Peto, J; Easton, DF and
(2012)
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Nature genetics, 44 (3).
pp. 312-318.
ISSN 1061-4036
DOI: 10.1038/ng.1049
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼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 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 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.
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