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Article

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

Clinical genetics - 1 Sept 2014

Eggington J M, Bowles K R, Moyes K, Manley S, Esterling L, Sizemore S, Rosenthal E, Theisen A, Saam J, Arnell C, Pruss D, Bennett J, Burbidge L A, Roa B, Wenstrup R J

Abstract excerpt

Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation detected in the laboratory is not always clear. Although regulatory agencies and professional...

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Identifiers

PMID: 24304220
DOI: 10.1111/cge.12315

Genes

BRCA1
VCP

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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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