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Article

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Clinical genetics - 1 Jul 2015

Peixoto A, Santos C, Pinto P, Pinheiro M, Rocha P, Pinto C, Bizarro S, Veiga I, Principe A S, Maia S, Castro F, Couto R, Gouveia A, Teixeira M R

Abstract excerpt

We report the analysis of altogether 1050 suspected hereditary breast/ovarian cancer (HBOC) families, 524 fully screened for BRCA1/BRCA2 mutations and 526 tested only for the most common mutations. Of the 119 families with pathogenic mutations, 40 (33.6%) had the BRCA2 c.156_157insAlu rearrangeme...

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Source

Identifiers

PMID: 24916970
DOI: 10.1111/cge.12441

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24916970-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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