Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 im...

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Hauptverfasser:	Zeng, C, Kuchenbaecker, KB, Michailidou, K, Ghoussaini, M, Hopper, JL, Milne, RL, Wang, Q, Dennis, J, Agata, S, Ahmed, S, Arason, A, Arun, BK, Arver, B, Bacot, F, Barrowdale, D, Baynes, C, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Brennan, P, Brenner, H, Caldes, T, Carpenter, J, Choi, JY, Claes, Kathleen, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dorfling, CM, Dork, T, dos-Santos-Silva, I, Dumont, M, Dwek, M, Egan, K, Ejlertsen, B, Ellis, S, Frost, D, Fasching, PA, Flyger, H, Friedlander, M, Gambino, G, Garber, J, Damiola, F, Lesueur, F, Guenel, P, Haeberle, L, Hallberg, E, Hamann, U, Hartikainen, JM, Hassan, N, Verhoef, S, Hollestelle, A, Hunter, DJ, Imyanitov, EN, Jakubowska, A, Jaworska-Bieniek, K, Jones, M, Karlan, BY, Khan, S, Lazaro, C, Lee, MH, Lester, J, Liljegren, A, Lophatananon, A, Mai, PL, Mannermaa, A, Matsuo, K, McGuffog, L, Montagna, M, Mulligan, AM, Nathanson, KL, Olopade, OI, Olswold, C, Park-Simon, TW, Paulsson-Karlsson, Y, Peeters, S, Peto, J, Pfeiler, G, Presneau, N, Sangrajrang, S, Schmidt, MK, Schurmann, P, Shrubsole, MJ, Southey, M, Steinemann, D, Szabo, CI, Tchatchou, S, Tessier, DC, Teule, A, Thomassen, M, Tischkowitz, M, Tung, N, Turnbull, C, ven den Berg, D, Weitzel, JN, Wong, TY, Wu, AH, Couch, FJ, Zheng, W
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and Life Sciences BRAC1 mutation carriers BRCA2 MUTATION CARRIERS Breast cancer CCDC91 ENHANCERS EXPRESSION Fine-scale mapping GENETIC MODIFIERS Genetic risk factor GENOME-WIDE ASSOCIATION HORMONE-RELATED PROTEIN LOCALIZATION METASTASIS OVARIAN-CANCER PTHLH SUSCEPTIBILITY LOCI
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