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http://hdl.handle.net/2445/127263
Title: | Identification of six new susceptibility loci for invasive epithelial ovarian cancer |
Author: | Kuchenbaecker, Karoline B. Ramus, Susan J. Tyrer, Jonathan P. Lee, Andrew Shen, Howard C. Beesley, Jonathan Lawrenson, Kate McGuffog, Lesley Healey, Sue Lee, Janet M. Spindler, Tassja J. Lin, Yvonne G. Pejovic, Tanja Bean, Yukie Li, Qiyuan Coetzee, Simon Hazelett, Dennis Miron, Alexander Southey, Melissa C. Terry, Mary Beth Goldgar, David E. Buys, Saundra S. Janavicius, Ramunas Dorfling, Cecilia M. van Rensburg, Elizabeth J. Neuhausen, Susan L. Ding, Yuan Chun Hansen, Thomas V. O. Jønson, Lars Gerdes, Anne Marie Ejlertsen, Bent Barrowdale, Daniel Dennis, Joe Benitez, Javier Osorio, Ana Garcia, Maria Jose Komenaka, Ian Blanco Guillermo, Ignacio Lázaro García, Conxi Pujana Genestar, M. Ángel |
Keywords: | Genoma humà Genètica del desenvolupament Cèl·lules epitelials Càncer d'ovari Nucleòtids Human genome Developmental genetics Epithelial cells Ovarian cancer Nucleotides |
Issue Date: | Feb-2015 |
Publisher: | Nature Publishing Group |
Abstract: | Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1038/ng.3185 |
It is part of: | Nature Genetics, 2015, vol. 47, num. 2, p. 164-171 |
URI: | http://hdl.handle.net/2445/127263 |
Related resource: | https://doi.org/10.1038/ng.3185 |
ISSN: | 1061-4036 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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