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Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

Breast cancer research and treatment - 1 Apr 2018

Dos Santos E Santana, Caputo S M, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan P K, Mucaki E J, Burke L J, Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown M A, Lallemand F, Rouleau E

Abstract excerpt

PURPOSE: The molecular mechanism of breast and/or ovarian cancer susceptibility remains unclear in the majority of patients. While germline mutations in the regulatory non-coding regions of BRCA1 and BRCA2 genes have been described, screening has generally been limited to coding regions. The aim of this study was to evaluate the contribution of BRCA1/2 non-coding variants. METHODS: Four BRCA1/2 non-coding regions...

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Source

Identifiers

PMID: 29236234
DOI: 10.1007/s10549-017-4602-0

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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