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Article

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Human mutation - 1 Jan 2012

Vallée Maxime P, Francy Tiana C, Judkins Megan K, Babikyan Davit, Lesueur Fabienne, Gammon Amanda, Goldgar David E, Couch Fergus J, Tavtigian Sean V

Abstract excerpt

Unclassified sequence variants (UVs) arising from clinical mutation screening of cancer susceptibility genes present a frustrating issue to clinical genetics services and the patients that they serve. We created an open-access database holding missense substitutions from the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. The main inclusion criterion is that each variant should have been assessed...

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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: 21990165
DOI: 10.1002/humu.21629
PMCID: PMC3478957

Genes

BRCA1
BRCA2

Provenance

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