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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

AuthorsKuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Hoya, Miguel de la; Díez, Orland; Blanco, Ignacio; Durán, Mercedes ; Tejada, María Isabel
Issue Date2015
PublisherNature Publishing Group
CitationNature Genetics 47(2): 164-171 (2015)
AbstractGenome-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 EOC risk. After imputation to the 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,397 cases unselected for family history and 30,816 controls, 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and 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) specifically with the serous EOC subtype, at p<5×10−8. Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1/2 mutation carriers.
DescriptionConsortium of Investigators of Modifiers of BRCA1 and BRCA2.-- et al.
PMCID: PMC4445140
Publisher version (URL)https://doi.org/10.1038/ng.3185
Identifiersdoi: 10.1038/ng.3185
e-issn: 1546-1718
issn: 1061-4036
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