Article
A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.
Journal of cellular and molecular medicine - 1 Jan 2010
van Lier Margot G F, Wagner Anja, van Leerdam Monique E, Biermann Katharina, Kuipers Ernst J, Steyerberg Ewout W, Dubbink Hendrikus Jan, Dinjens Winand N M
Abstract excerpt
Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diagnosis of LS is complicated by the absence of a pre-morbid phenotype and germline mutation analysis is expensive and...
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