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Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Nature genetics, 2015-02, Vol.47 (2), p.164-171
2015
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Autor(en) / Beteiligte
Titel
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Ist Teil von
  • Nature genetics, 2015-02, Vol.47 (2), p.164-171
Ort / Verlag
United States: Nature Publishing Group
Erscheinungsjahr
2015
Quelle
MEDLINE
Beschreibungen/Notizen
  • 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.
Sprache
Englisch
Identifikatoren
ISSN: 1061-4036, 1546-1718
eISSN: 1546-1718
DOI: 10.1038/ng.3185
Titel-ID: cdi_swepub_primary_oai_prod_swepub_kib_ki_se_130633340
Format
–
Schlagworte
Accuracy, Adolescent, Adult, Alleles, Basic Medicine, BRCA1 Protein, BRCA1 Protein - genetics, BRCA2 Protein, BRCA2 Protein - genetics, Carcinoma, Ovarian Epithelial, Càncer d'ovari, Cèl·lules epitelials, Developmental genetics, Epithelial cells, Female, Genes, Reporter, Genetic aspects, Genetic Predisposition to Disease, Genoma humà, Genome-Wide Association Study, Genome-Wide Association Study - methods, Genomes, Genotype, Genètica del desenvolupament, Haplotypes, Health aspects, Heterozygote, Hormone replacement therapy, Human genome, Humans, Identification and classification, Medical and Health Sciences, Medical Genetics, Medicin och hälsovetenskap, Medicinsk genetik, Medicinska och farmaceutiska grundvetenskaper, Meta-Analysis, Mutation, Neoplasms, Glandular and Epithelial, Neoplasms, Glandular and Epithelial - genetics, Nucleotides, Nucleòtids, Ovarian cancer, Ovarian Neoplasms, Ovarian Neoplasms - genetics, Polymorphism, Single Nucleotide, Population, Quantitative Trait Loci, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Risk, Young Adult

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