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Article

Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.

Breast cancer research and treatment - 1 Apr 2018

Yang Ciyu, Jairam Sowmya, Amoroso Kimberly A, Robson Mark E, Walsh Michael F, Zhang Liying

Abstract excerpt

PURPOSE: Germline mutations in BRCA1 and BRCA2 confer a significant increase in risk for cancer, and determining pathogenicity of a BRCA variant can guide the clinical management of the disease. About 1/3 of BRCA1 variants reported in the public databases have uncertain clinical significance due to lack of conclusive evidence. This study aims to characterize a novel BRCA1 deletion affecting the + 4 splice donor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29185120
DOI: 10.1007/s10549-017-4595-8
PMCID: PMC6788766

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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