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Article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.

Human mutation - 1 Apr 2003

Campos Berta, Díez Orland, Odefrey Fabrice, Domènech Montserrat, Moncoutier Virginie, Martínez-Ferrandis José Ignacio, Osorio Ana, Balmaña Judith, Barroso Alicia, Armengod María Eugenia, Benítez Javier, Alonso Carmen, Stoppa-Lyonnet Dominique, Goldgar David, Baiget Montserrat

Abstract excerpt

A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin...

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Share to BRCA2 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12655574
DOI: 10.1002/humu.9133

Genes

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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