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Genome-wide association analysis identifies three new breast cancer susceptibility loci

Title: Genome-wide association analysis identifies three new breast cancer susceptibility loci
Authors: Ghoussaini, M; Fletcher, O; Michailidou, K; Turnbull, C; Schmidt, Marjanka K; Dicks, E; Dennis, J; Wang, Q (Qing); Humphreys, MK; Luccarini, C; Baynes, C; Conroy, D; Maranian, M; Ahmed, S (Shahana); Driver, K; Johnson, N; Orr, N; Silva, ID; Waisfisz, Q; Meijers-Heijboer, H; Uitterlinden, André; Rivadeneira, Fernando; 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; Guenal, P; Truong, T; Cordina-Duverger, E; Menegaux, F; Bojesen, SE; Nordestgaard, BG; Nielsen, SF; Flyger, H; Milne, RL; Alonso, MR; Gonzalez-Neira, A; Benitez, J; Anton-Culver, H; Ziogas, A; Bernstein, L; Dur, CC; Brenner, H; Muller, H; Arndt, V; Stegmaier, C; Justenhoven, C; Brauch, H; Bruning, T; Wang-Gohrke, S; Eilber, U; Dork, T; Schurmann, 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, VM; Hartikainen, JM; Lambrechts, D; Yesilyurt, BT; Floris, G; Leunen, K; Manoukian, S; Bonanni, B; Fortuzzi, S; Peterlongo, P; Couch, FJ; Wang, XS; Stevens, K; Lee, A; Giles, GG; Baglietto, L; Severi, G; McLean, C; Alnaes, GG; Kristensen, V; Borrensen-Dale, AL; John, EM; Miron, A; Winqvist, R; Pylkas, K; Jukkola-Vuorinen, A; Kauppila, S; Andrulis, IL; Glendon, G; Mulligan, AM; Devilee, P; van Asperen, CJ; Tollenaar, RAEM; Seynaeve, Caroline; Figueroa, JD; Garcia-Closas, M; Brinton, L; Lissowska, J; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier; van den Ouweland, Ans; Cox, A; Reed, MWR; Shah, M; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Jones, M; Schoemaker, M; Ashworth, A; Swerdlow, A; Beesley, J; Chen, XQ; Muir, KR; Lophatananon, A; Rattanamongkongul, S; Chaiwerawattana, A; Kang, D; Yoo, KY; Noh, DY; Shen, CY; Yu, JC; Wu, PE; Hsiung, CN; Perkins, A; Swann, R; Velentzis, L; Eccles, DM; Tapper, WJ; Gerty, SM; Graham, NJ; Ponder, BAJ; Chenevix-Trench, G; Pharoah, PDP; Lathrop, M; Dunning, AM; Rahman, N; Peto, J; Easton, DF
Source: Ghoussaini, M, Fletcher, O, Michailidou, K, Turnbull, C, Schmidt, M K, 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, A, 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, ....
Publication Year: 2012
Subject Terms: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601; name=EMC MGC-02-96-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A; name=EMC MM-01-39-09-A; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM038601; name=EMC MM-03-86-01; /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being
Description: 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.
Document Type: article in journal/newspaper
Language: unknown
ISSN: 1061-4036; 1546-1718
Relation: info:eu-repo/semantics/altIdentifier/pmid/22267197; info:eu-repo/semantics/altIdentifier/pissn/1061-4036; info:eu-repo/semantics/altIdentifier/eissn/1546-1718
DOI: 10.1038/ng.1049
Availability: https://pure.eur.nl/en/publications/b48c2687-c8d0-4f5c-ae99-a21276f73aac; https://doi.org/10.1038/ng.1049; https://hdl.handle.net/1765/56759
Rights: info:eu-repo/semantics/closedAccess
Accession Number: edsbas.B7A3876
Database: BASE