A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Abstract

BACKGROUND Besides revealing cancer predisposition variants or the absence of any changes, genetic testing for cancer predisposition genes can also identify variants of uncertain clinical significance (VUS). Classifying VUSs is a pressing problem, as ever more patients seek genetic testing for disease syndromes and receive noninformative results from those… (More)
DOI: 10.1158/1055-9965.EPI-10-1214

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Cite this paper

@article{Iversen2011ACM, title={A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.}, author={Edwin S. Iversen and Fergus J. Couch and David E. Goldgar and Sean V. Tavtigian and Alvaro N. A. Monteiro}, journal={Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology}, year={2011}, volume={20 6}, pages={1078-88} }