A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

doi:10.1002/humu.21627

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Article

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human mutation - 1 Jan 2012

Lindor Noralane M, Guidugli Lucia, Wang Xianshu, Vallée Maxime P, Monteiro Alvaro N A, Tavtigian Sean, Goldgar David E, Couch Fergus J

Abstract excerpt

Clinical mutation screening of the BRCA1 and BRCA2 genes for the presence of germline inactivating mutations is used to identify individuals at elevated risk of breast and ovarian cancer. Variants identified during screening are usually classified as pathogenic (increased risk of cancer) or not pathogenic (no increased risk of cancer). However, a significant proportion of genetic tests yields variants of...

Topics

Adult
Alleles
Breast Neoplasms
Codon
Exons
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Humans

Middle Aged

Models, Statistical

Ovarian Neoplasms

Probability

Prognosis

Source

Open in PubMed Open full text

Identifiers

PMID: 21990134
DOI: 10.1002/humu.21627
PMCID: PMC3242438

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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