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Article

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.

BMC medical genetics - 28 May 2010

Whiley Phillip J, Pettigrew Christopher A, Brewster Brooke L, Walker Logan C, Spurdle Amanda B, Brown Melissa A

Abstract excerpt

BACKGROUND: Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although accurate prediction of aberrant splicing by unclassified variants affecting exonic splice enhancers...

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Identifiers

PMID: 20507642
DOI: 10.1186/1471-2350-11-80
PMCID: PMC2897790

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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