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Article

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Human mutation - 1 Jul 2011

Mucaki Eliseos J, Ainsworth Peter, Rogan Peter K

Abstract excerpt

Variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes potentially affecting coding sequence as well as normal splicing activity have confounded predisposition testing in breast cancer. Here, we apply information theory to analyze BRCA1/2 mRNA splicing mutations categorized as VUS. The method was validated for 31 of 36 mutations known to cause missplicing in BRCA1/2 and all 26 that do not alter...

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Source

Identifiers

PMID: 21523855
DOI: 10.1002/humu.21513

Genes

BRCA1
BRCA2

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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