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In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

Cancer genetics - 1 Nov 2016

Rodríguez-Balada Marta, Roig Bàrbara, Martorell Lourdes, Melé Mireia, Salvat Mònica, Vilella Elisabet, Borràs Joan, Gumà Josep

Abstract excerpt

Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combination of in silico prediction and cDNA splicing analyses of 13 BRCA1 and 10 BRCA2 VUS identified in our cohort as well as a...

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Source

Identifiers

PMID: 27886673
DOI: 10.1016/j.cancergen.2016.09.003

Genes

BRCA2
BRCA1

Variants

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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