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Article

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

American journal of human genetics - 1 Oct 2004

Goldgar David E, Easton Douglas F, Deffenbaugh Amie M, Monteiro Alvaro N A, Tavtigian Sean V, Couch Fergus J

Abstract excerpt

Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high- or low-risk categories is an important problem in clinical genetics. Classification of such variants can be performed by direct epidemiological observations, including cosegregation with disease in families and degree of family history of the disease, or by indirect measures,...

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Source

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Identifiers

PMID: 15290653
DOI: 10.1086/424388
PMCID: PMC1182042

Genes

BRCA1
BRCA2

Variants

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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