Article
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Cancer research - 1 Jan 2013
Guidugli Lucia, Pankratz Vernon S, Singh Namit, Thompson James, Erding Catherine A, Engel Christoph, Schmutzler Rita, Domchek Susan, Nathanson Katherine, Radice Paolo, Singer Christian, Tonin Patricia N, Lindor Noralane M, Goldgar David E, Couch Fergus J
Abstract excerpt
The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has not been determined due to limited genetic information from families carrying these alterations. Here, we classified six new variants as pathogenic or nonpathogenic by analysis of genetic information from families carrying 64 individual BRCA2 DNA binding domain (DBD) missense mutations using a multifactorial likelihood model...
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