Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

doi:10.1002/humu.10260

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Human mutation - 1 Oct 2003

Díez Orland, Osorio Ana, Durán Mercedes, Martinez-Ferrandis José Ignacio, de la Hoya Miguel, Salazar Raquel, Vega Ana, Campos Berta, Rodríguez-López Raquel, Velasco Eladio, Chaves Javier, Díaz-Rubio Eduardo, Jesús Cruz Juan, Torres María, Esteban Eva, Cervantes Andrés, Alonso Carmen, San Román Juan Manuel, González-Sarmiento Rogelio, Miner Cristina, Carracedo Angel, Eugenia Armengod María, Caldés Trinidad, Benítez Javier, Baiget Montserrat

Abstract excerpt

We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 d...

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Identifiers

PMID: 12955716
DOI: 10.1002/humu.10260

Genes

BRCA2
BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12955716-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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