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Article

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Journal of the National Cancer Institute - 1 Dec 2024

Elze Lisa, van der Post Rachel S, Vos Janet R, Mensenkamp Arjen R, Pamidimarri Naga Samhita, Hampstead Juliet E, Vermeulen Emma, Oorsprong Michiel, Hofste Tom, Simons Michiel, Nagtegaal Iris D, Hoogerbrugge Nicoline, de Voer Richarda M, Ligtenberg Marjolijn J L

Abstract excerpt

BACKGROUND: Individuals with germline pathogenic variants in BRCA1 or BRCA2 are at a high risk of breast and ovarian carcinomas with BRCA1/2 deficiency and homologous recombination deficiency that can be detected by analysis of genome-wide genomic instability features such as large-scale state transitions, telomeric allelic imbalances, and genomic loss of heterozygosity. Malignancies with homologous recombination...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38960732
DOI: 10.1093/jnci/djae160
PMCID: PMC11630509

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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