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Article

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.

International journal of cancer - 1 Feb 2002

de la Hoya Miguel, Osorio Ana, Godino Javier, Sulleiro Sara, Tosar Alicia, Perez-Segura Pedro, Fernandez Cristina, Rodríguez Raquel, Díaz-Rubio Eduardo, Benítez Javier, Devilee Peter, Caldés Trinidad

Abstract excerpt

Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breast cancer susceptibility genes BRCA1 and BRCA2. Overall, the prevalence of mutations was 43% in female breast/ovarian cancer...

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Source

Identifiers

PMID: 11802208
DOI: 10.1002/ijc.1627

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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