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Article

Identification of a novel pathogenic mutation in BRCA2 in a Spanish breast-ovarian cancer family.

Genetic testing and molecular biomarkers - 1 Oct 2009

Torres Asuncion, Gumà Josep, Rodríguez Marta, Brunet Joan, Borràs Joan

Abstract excerpt

Germline mutations in the BRCA1/2 genes contribute to most of inherited breast and ovarian cancers. We analyzed a family fulfilling classical criteria of hereditary breast/ovarian cancer. After complete sequencing of coding regions and splice junctions of both genes, a nonpreviously reported mutation in BRCA2 was detected in the index case. Direct mutation detection was performed with their relatives, and three...

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Source

Identifiers

PMID: 19715467
DOI: 10.1089/gtmb.2009.0040

Genes

BRCA2
BRCA1

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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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