Article
Functional assays for classification of BRCA2 variants of uncertain significance.
Cancer research - 1 May 2008
Farrugia Daniel J, Agarwal Mukesh K, Pankratz Vernon S, Deffenbaugh Amie M, Pruss Dmitry, Frye Cynthia, Wadum Linda, Johnson Kiley, Mentlick Jennifer, Tavtigian Sean V, Goldgar David E, Couch Fergus J
Abstract excerpt
The assessment of the influence of many rare BRCA2 missense mutations on cancer risk has proved difficult. A multifactorial likelihood model that predicts the odds of cancer causality for missense variants is effective, but is limited by the availability of family data. As an alternative, we developed functional assays that measure the influence of missense mutations on the ability of BRCA2 to repair DNA damage...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.