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Article

Characterization of common BRCA1 and BRCA2 variants.

Genetic testing - 1 Jan 2002

Deffenbaugh Amie M, Frank Thomas S, Hoffman Michael, Cannon-Albright Lisa, Neuhausen Susan L

Abstract excerpt

Many missense variants identified in BRCA1 and BRCA2, two genes responsible for the majority of hereditary breast and ovarian cancer, are of unclear clinical significance. Characterizing the significance of such variants is important for medical management of patients in whom they are identified. The aim of this study was to characterize eight of the most common reported missense mutations in BRCA1 and BRCA2...

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Source

Identifiers

PMID: 12215251
DOI: 10.1089/10906570260199375

Genes

BRCA2
BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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