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Article

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Human mutation - 1 Dec 2015

Lee Cindy, Banerjee Tapahsama, Gillespie Jessica, Ceravolo Amanda, Parvinsmith Matthew R, Starita Lea M, Fields Stanley, Toland Amanda E, Parvin Jeffrey D

Abstract excerpt

Genes associated with hereditary breast and ovarian cancer (HBOC) are often sequenced in search of mutations that are predictive of susceptibility to these cancer types, but the sequence results are frequently ambiguous because of the detection of missense substitutions for which the clinical impact is unknown. The BARD1 protein is the heterodimeric partner of BRCA1 and is included on clinical gene panels for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26350354
DOI: 10.1002/humu.22902
PMCID: PMC6005381

Genes

BARD1
BRCA1

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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