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Article

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

The oncologist - 1 Jan 2013

Lindor Noralane M, Goldgar David E, Tavtigian Sean V, Plon Sharon E, Couch Fergus J

Abstract excerpt

INTRODUCTION: DNA variants of uncertain significance (VUS) are common outcomes of clinical genetic testing for susceptibility to cancer. A statistically rigorous model that provides a pathogenicity score for each variant has been developed to aid in the clinical management of patients undergoing genetic testing. METHODS: The information in this article is derived from multiple publications on VUS in BRCA genes,...

Topics

BRCA1 Protein
BRCA2 Protein
Breast Neoplasms
Female
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Likelihood Functions
Middle Aged
Models, Statistical

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Ovarian Neoplasms

Probability

Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 23615697
DOI: 10.1634/theoncologist.2012-0452
PMCID: PMC3662842

Genes

BRCA1
BRCA2

Provenance

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

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BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.PMID 23615697Read ↗

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