Article
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
Journal of medical genetics - 1 Apr 2014
Wielders Eva A L, Hettinger Jan, Dekker Rob, Kets C Marleen, Ligtenberg Marjolijn J, Mensenkamp Arjen R, van den Ouweland Ans M W, Prins Judith, Wagner Anja, Dinjens Winand N M, Dubbink Hendrikus Jan, van Hest Liselotte P, Menko Fred, Hogervorst Frans, Verhoef Senno, te Riele Hein
Abstract excerpt
BACKGROUND: Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functional implications, hampering genetic counselling. We have applied a novel approach to study...
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