- 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
- Dos Santos Silva, I
- Waisfisz, Q
- Meijers-Heijboer, H
- Uitterlinden, AG
- Rivadeneira, F
- Hall, P
- Czene, K
- Irwanto, A
- Liu, J
- Nevanlinna, H
- Aittom Currency Signki, 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, FBL
- 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
- Gonzlez-Neira, A
- Ben-tez, J
- Anton-Culver, H
- Ziogas, A
- Bernstein, L
- Dur, CC
- Brenner, H
- Müller, H
- Arndt, V
- Stegmaier, C
- Justenhoven, C
- Brauch, H
- et al.
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 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 g35), 12q24 (rs1292011; P = 4.3 - 10 g19) and 21q21 (rs2823093; P = 1.1 - 10 g12). 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. © 2012 Nature America, Inc. All rights reserved.