Article
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
Human mutation - 1 Sept 2016
Hilbers Florentine S, Luijsterburg Martijn S, Wiegant Wouter W, Meijers Caro M, Völker-Albert Moritz, Boonen Rick A, van Asperen Christi J, Devilee Peter, van Attikum Haico
Abstract excerpt
XRCC2 genetic variants have been associated with breast cancer susceptibility. However, association studies have been complicated because XRCC2 variants are extremely rare and consist mainly of amino acid substitutions whose grouping is sensitive to misclassification by the predictive algorithms. We therefore functionally characterized variants in XRCC2 by testing their ability to restore XRCC2-DNA repair...
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