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Article

Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024

Morgan Robert D, Burghel George J, Flaum Nicola, Schlecht Helene, Clamp Andrew R, Hasan Jurjees, Mitchell Claire, Salih Zena, Moon Sarah, Hogg Martin, Lord Rosemary, Forde Claire, Lalloo Fiona, Woodward Emma R, Crosbie Emma J, Taylor Stephen S, Jayson Gordon C, Evans D Gareth R

Abstract excerpt

PURPOSE: The prevalence of germline pathogenic variants (PVs) in homologous recombination repair (HRR) and Lynch syndrome (LS) genes in ovarian cancer (OC) is uncertain. METHODS: An observational study reporting the detection rate of germline PVs in HRR and LS genes in all OC cases tested in the North West Genomic Laboratory Hub between September 1996 and May 2024. Effect sizes are reported using odds ratios...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39096152
DOI: 10.1016/j.gim.2024.101230

Genes

BRIP1
BRCA1
PALB2
RAD51C
RAD51D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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