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Article

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Cancer research - 15 Jun 2010

Lee Megan S, Green Ruth, Marsillac Sylvia M, Coquelle Nicolas, Williams R Scott, Yeung Telford, Foo Desmond, Hau D Duong, Hui Ben, Monteiro Alvaro N A, Glover J N Mark

Abstract excerpt

Genetic screening of the breast and ovarian cancer susceptibility gene BRCA1 has uncovered a large number of variants of uncertain clinical significance. Here, we use biochemical and cell-based transcriptional assays to assess the structural and functional defects associated with a large set of 117 distinct BRCA1 missense variants within the essential BRCT domain of the BRCA1 protein that have been documented in...

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Share to BRCA1 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phosphopeptides

Share to Protein Folding

Share to Protein Structure, Tertiary

Share to Transcription, Genetic

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Source

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Identifiers

PMID: 20516115
DOI: 10.1158/0008-5472.CAN-09-4563
PMCID: PMC3040717

Genes

BRCA1

Provenance

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