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

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 relat... Mehr ...

Verfasser: Ghoussaini, Maya
Fletcher, Olivia
Michailidou, Kyriaki
Turnbull, Clare
Schmidt, Marjanka K
Dicks, Ed
Dennis, Joe
Wang, Qin
Humphreys, Manjeet K
Luccarini, Craig
Baynes, Caroline
Conroy, Don
Maranian, Melanie
Ahmed, Shahana
Driver, Kristy
Johnson, Nichola
Orr, Nicholas
dos Santos Silva, Isabel
Waisfisz, Quinten
Meijers-Heijboer, Hanne
Uitterlinden, Andre G
Rivadeneira, Fernando
Hall, Per
Czene, Kamila
Irwanto, Astrid
Liu, Jianjun
Nevanlinna, Heli
Aittomäki, Kristiina
Blomqvist, Carl
Meindl, Alfons
Schmutzler, Rita K
Müller-Myhsok, Bertram
Lichtner, Peter
Chang-Claude, Jenny
Hein, Rebecca
Nickels, Stefan
Flesch-Janys, Dieter
Tsimiklis, Helen
Makalic, Enes
Schmidt, Daniel
Bui, Minh
Hopper, John L
Apicella, Carmel
Park, Daniel J
Southey, Melissa
Hunter, David J
Chanock, Stephen J
Broeks, Annegien
Verhoef, Senno
Hogervorst, Frans BL
Fasching, Peter A
Lux, Michael P
Beckmann, Matthias W
Ekici, Arif B
Sawyer, Elinor
Tomlinson, Ian
Kerin, Michael
Marme, Frederik
Schneeweiss, Andreas
Sohn, Christof
Burwinkel, Barbara
Guénel, Pascal
Truong, Thérèse
Cordina-Duverger, Emilie
Menegaux, Florence
Bojesen, Stig E
Nordestgaard, Børge G
Nielsen, Sune F
Flyger, Henrik
Milne, Roger L
Alonso, M Rosario
González-Neira, Anna
Benítez, Javier
Anton-Culver, Hoda
Ziogas, Argyrios
Bernstein, Leslie
Dur, Christina Clarke
Brenner, Hermann
Müller, Heiko
Arndt, Volker
Stegmaier, Christa
Justenhoven, Christina
Brauch, Hiltrud
Brüning, Thomas
Wang-Gohrke, Shan
Eilber, Ursula
Dörk, Thilo
Schürmann, Peter
Bremer, Michael
Hillemanns, Peter
Bogdanova, Natalia V
Antonenkova, Natalia N
Rogov, Yuri I
Karstens, Johann H
Bermisheva, Marina
Prokofieva, Darya
Khusnutdinova, Elza
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Dokumenttyp: Artikel
Erscheinungsdatum: 2012
Reihe/Periodikum: Nature Genetics, vol 44, iss 3
Verlag/Hrsg.: eScholarship
University of California
Schlagwörter: Biological Sciences / Genetics / Estrogen / Human Genome / Prevention / Cancer / Breast Cancer / Aetiology / 2.1 Biological and endogenous factors / Breast Neoplasms / Chromosomes / Human / Pair 12 / Pair 21 / Female / Genetic Loci / Genetic Predisposition to Disease / Genome-Wide Association Study / Humans / Logistic Models / Polymorphism / Single Nucleotide / Principal Component Analysis / White People / Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer / Familial Breast Cancer Study / Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network / kConFab Investigators / Australian Ovarian Cancer Study Group / Medical and Health Sciences / Developmental Biology / Agricultural biotechnology / Bioinformatics and computational biology
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-29575109
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://escholarship.org/uc/item/8379s676

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.