Journal article

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, Aocs Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno Show all

Journal of Medical Genetics | Published : 2020


PURPOSE: The known epithelial ovarian cancer (EOC) susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting that other susceptibility genes exist. The aim of this study was to evaluate the contribution to ovarian cancer susceptibility of rare deleterious germline variants in a set of candidate genes. METHODS: We sequenced the coding region of 54 candidate genes in 6385 invasive EOC cases and 6115 controls of broad European ancestry. Genes with an increased frequency of putative deleterious variants in cases versus controls were further examined in an independent set of 14 135 EOC cases and 28 655 controls from the Ovarian Cancer Association Consortium..

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