Article
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
The Journal of pathology - 1 Dec 2014
Geurts-Giele Willemina R R, Leenen Celine H M, Dubbink Hendrikus J, Meijssen Isabelle C, Post Edward, Sleddens Hein F B M, Kuipers Ernst J, Goverde Anne, van den Ouweland Ans M W, van Lier Margot G F, Steyerberg Ewout W, van Leerdam Monique E, Wagner Anja, Dinjens Winand N M
Abstract excerpt
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes, resulting in microsatellite-unstable tumours. Approximately 35% of suspected LS (sLS) patients test negative for germline MMR gene mutations, hampering conclusive LS diagnosis. The aim of this study was to investigate somatic MMR gene aberrations in microsatellite-unstable colorectal and endometrial cancers of sLS patients...
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