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Article

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.

American journal of human genetics - 2 Jul 2026

Schnaiter Simon, Santer Frédéric R, Csanaky Katalin A, Jensen Louise Adel, Zeimet Alain G, Michailidou Kyriaki, Spurdle Amanda B, Thomassen Mads

Abstract excerpt

Homologous recombination deficiency (HRD) drives oncogenesis and therapeutic vulnerability in high-grade ovarian cancer (HGOC). While HRD testing is widely used to guide platinum- and especially poly(ADP-ribose) polymerase (PARP)-inhibitor-based therapies, its potential to provide evidence for BRCA1 and BRCA2 variant classification under the American College of Medical Genetics and Genomics and the Association...

Topics

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BRCA1 Protein
BRCA2 Protein
BRCA2 gene
Genetic Predisposition to Disease
Genomic Instability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Homologous Recombination

Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 42335889
DOI: 10.1016/j.ajhg.2026.05.015
PMCID: PMC13504338

Genes

BRCA1
BRCA2

Provenance

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

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Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.PMID 42335889Read ↗

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Combination of<i>BRCA</i>deep targeted sequencing and shallow whole genome sequencing to detect homologous recombination deficiency in ovarian cancerSemantic proximity Read ↗

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