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Article

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Nucleic acids research - 1 Jan 2012

Caputo Sandrine, Benboudjema Louisa, Sinilnikova Olga, Rouleau Etienne, Béroud Christophe, Lidereau Rosette

Abstract excerpt

BRCA1 and BRCA2 are the two main genes responsible for predisposition to breast and ovarian cancers, as a result of protein-inactivating monoallelic mutations. It remains to be established whether many of the variants identified in these two genes, so-called unclassified/unknown variants (UVs), contribute to the disease phenotype or are simply neutral variants (or polymorphisms). Given the clinical importance of...

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Identifiers

PMID: 22144684
DOI: 10.1093/nar/gkr1160
PMCID: PMC3245050

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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