Exome sequencing identifies <i>HELB</i> as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.

ABSTRACT: Rare, germline loss-of-function variants in a handful of genes that encode DNA repair proteins have been shown to be associated with epithelial ovarian cancer with a stronger association for the high-grade serous hiostotype. The aim of this study was to collate exome sequencing data from multiple epithelial ovarian cancer case cohorts and controls in order to systematically evaluate the role of coding, loss-of-function variants across the genome in epithelial ovarian cancer risk. We assembled exome data for a total of 2,573 non-mucinous cases (1,876 high-grade serous and 697 non-high grade serous) and 13,925 controls. Harmonised variant calling and quality control filtering was applied across the different data sets. We carried out a gene-by-gene simple burden test for association of rare

SUBMITTER: Dicks EM 

PROVIDER: S-EPMC11023670 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature