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Article

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

PloS one - 1 Jan 2014

Whiley Phillip J, Parsons Michael T, Leary Jennifer, Tucker Kathy, Warwick Linda, Dopita Belinda, Thorne Heather, Lakhani Sunil R, Goldgar David E, Brown Melissa A, Spurdle Amanda B

Abstract excerpt

Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1 and BRCA2 are problematic for genetic counseling and clinical management of relevant families. This study used multifactorial likelihood analysis and/or bioinformatically-directed mRNA assays to assess pathogenicity of 19 BRCA1 or BRCA2 variants identified following patient referral to clinical genetic services. Two variants...

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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: 24489791
DOI: 10.1371/journal.pone.0086836
PMCID: PMC3904950

Genes

BRCA1
BRCA2
BARD1

Variants

Provenance

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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