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Article

Detecting BRCA2 protein truncation in tissue biopsies to identify breast cancers that arise in BRCA2 gene mutation carriers.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 20 Aug 2009

Watson Patrice, Lieberman Rita, Snyder Carrie, Clark Vanessa J, Lynch Henry T, Holt Jeffrey T

Abstract excerpt

PURPOSE: Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-type allele has loss of heterozygosity (LOH) within the cancer. Because most disease-associated BRCA2 mutations are protein-truncating mutations, a test for truncated BRCA2 proteins should identify most...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19620486
DOI: 10.1200/JCO.2008.20.5211
PMCID: PMC2799150

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19620486-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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