Analysis of BRCA gene missense mutations

Stella W.S. Lai, Rebecca M. Lopes, Elaine Doherty, Debra O. Prosser, Rongying Tang, Donald R. Love


With the significant progress in sequencing technologies over the last 10 years, a concomitant increase in the detection of variants of uncertain significance (VUSs) has been reported with an increasing amount of data. The interpretation of VUSs has been challenging due to the discordance of prediction results and their classification in different locus-specific databases (LSDBs). The evolving nature of variant classification systems poses the question as to the best strategies for variant interpretation. With the increased complexity of data analysis in a clinical setting, the pathogenicity of a variant should be determined through integrating and interpreting the data as a whole. Here we demonstrate the problems that are commonly encountered when interpreting VUSs and show that data integration helps in determining the pathogenicity of a variant.

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Journal of Biomedical Engineering and Informatics

ISSN 2377-9381(Print)  ISSN 2377-939X(Online)

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