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Article

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

European journal of human genetics : EJHG - 1 Mar 2025

Dicks Ed M, Tyrer Jonthan P, Ezquina Suzana, Jones Michelle, Baierl John, Peng Pei-Chen, Diaz Michael, Goode Ellen, Winham Stacey J, Dörk Thilo, Gorp Toon Van, Fazio Anna De, Bowtell David D L, Garsed Dale W, Odunsi Kunle, Moysich Kirsten, Pavanello Marina, Fostira Florentia, Webb Penelope M, Soukupová Jana, Cohen Paul A, Sieh Weiva, Fortner Renée Turzanski, Ricker Charite, Karlan Beth, Campbell Ian, Brenton James D, Ramus Susan J, Gayther Simon A, Pharoah Paul D P

Abstract excerpt

Rare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithelial ovarian cancer. We carried out a gene-by-gene burden test with various histotypes using data from 2573 non-mucinous cases and 13,923 controls. Twelve genes were associated...

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Source

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Identifiers

PMID: 39939714
DOI: 10.1038/s41431-025-01786-0
PMCID: PMC11894177

Genes

HELB
BRCA1
BRCA2
BRIP1
GABRP
MIGA1
MSH6
MYO1A
PALB2
RAD51C
RAD51D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.PMID 39939714Read ↗

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