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Article

Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.

Familial cancer - 1 Jan 2009

Santos Catarina, Peixoto Ana, Rocha Patrícia, Vega Ana, Soares Maria José, Cerveira Nuno, Bizarro Susana, Pinheiro Manuela, Pereira Deolinda, Rodrigues Helena, Castro Fernando, Henrique Rui, Teixeira Manuel R

Abstract excerpt

We investigated the functional effect of the missense variant c.211A>G (R71G) localized at position -2 of exon 5 donor splice site in the BRCA1 gene and evaluated whether Portuguese and Galician families with this mutation share a common ancestry. Three unrelated Portuguese breast/ovarian cancer families carrying this variant were studied through qualitative and quantitative transcript analyses. We also evaluated...

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PMID: 19123044
DOI: 10.1007/s10689-008-9229-1

Genes

BRCA1

Variants

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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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