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Article

Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.

Annals of oncology : official journal of the European Society for Medical Oncology - 1 May 2009

Pensabene M, Spagnoletti I, Capuano I, Condello C, Pepe S, Contegiacomo A, Lombardi G, Bevilacqua G, Caligo M A

Abstract excerpt

BACKGROUND: Although most BRCA sequence variants are clearly deleterious and unequivocally pathogenetic, several are still classified as variants of unknown significance. PATIENTS AND METHODS: We followed families undergoing oncogenetic counseling from risk identification to risk definition by genetic testing and risk management. RESULTS: We identified two germline mutations in the BRCA2 gene in a woman with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19179552
DOI: 10.1093/annonc/mdn724

Genes

BRCA2

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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