Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequencing data from 516 BRCA1/2 -negative women with HGSOC, focusing on genes enriched with rare, protein-...

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Bibliographic Details
Published in:	Nature communications Vol. 11; no. 1; p. 1640
Main Authors:	Subramanian, Deepak N., Zethoven, Magnus, McInerny, Simone, Morgan, James A., Rowley, Simone M., Lee, Jue Er Amanda, Li, Na, Gorringe, Kylie L., James, Paul A., Campbell, Ian G.
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 02-04-2020 Nature Publishing Group Nature Portfolio
Subjects:	45/23 692/308/2056 692/420/2489/68 692/699/67/1517/1709 Adult Aged Aged, 80 and over BRCA1 protein Chi-square test Cohort Studies Cystadenocarcinoma, Serous - genetics Cystadenocarcinoma, Serous - pathology Deoxyribonucleic acid DNA DNA repair Enrichment Exome Exome Sequencing Female Genes Genetic Heterogeneity Genetic Predisposition to Disease Heritability Heterogeneity Humanities and Social Sciences Humans Loss of Function Mutation Middle Aged multidisciplinary Mutation Ovarian cancer Ovarian carcinoma Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Proteins Science Science (multidisciplinary) Statistical tests Young Adult
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