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Article

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

The Journal of molecular diagnostics : JMD - 1 May 2014

Santos Catarina, Peixoto Ana, Rocha Patrícia, Pinto Pedro, Bizarro Susana, Pinheiro Manuela, Pinto Carla, Henrique Rui, Teixeira Manuel R

Abstract excerpt

Hereditary breast/ovarian cancer syndrome is caused by germline deleterious mutations in BRCA1 and BRCA2. A major problem of genetic testing and counseling is the finding of variants of uncertain significance (VUS). We sought to ascertain the pathogenicity of 25 BRCA1 and BRCA2 VUS identified in Portuguese families during genetic testing. We performed cosegregation analysis of VUS with cancer in families,...

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Identifiers

PMID: 24607278
DOI: 10.1016/j.jmoldx.2014.01.005

Genes

BRCA2
BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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