Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Research output: Contribution to journalJournal articleResearchpeer-review

Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S Healey, Manjeet K Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A Pooley, Robert Luben, Diana Eccles, D Gareth Evans, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Michael R Stratton, Nazneen Rahman, Kevin Jacobs, Ross Prentice & 34 others Garnet L Anderson, Aleksandar Rajkovic, J David Curb, Regina G Ziegler, Christine D Berg, Saundra S Buys, Catherine A McCarty, Heather Spencer Feigelson, Eugenia E Calle, Michael J Thun, W Ryan Diver, Stig Bojesen, Børge G Nordestgaard, Henrik Flyger, Thilo Dörk, Peter Schürmann, Peter Hillemanns, Johann H Karstens, Natalia V Bogdanova, Natalia N Antonenkova, Iosif V Zalutsky, Marina Bermisheva, Sardana Fedorova, Elza Khusnutdinova, SEARCH, Daehee Kang, Keun-Young Yoo, Dong Young Noh, Sei-Hyun Ahn, Peter Devilee, Christi J van Asperen, GENICA Consortium, kConFab, Australian Ovarian Cancer Study Group

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.
Original languageEnglish
JournalNature Genetics
Issue number5
Pages (from-to)585-90
Number of pages6
Publication statusPublished - 2009

Bibliographical note

Keywords: Breast Neoplasms; Chromosome Mapping; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 3; Disease Susceptibility; Female; Genetic Predisposition to Disease; Genome, Human; Genotype; Humans

ID: 20543498