The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.

Abstract excerpt

Missense changes constitute approximately 1/3 and 1/5 of all rare sequence constitutional variations identified in the MLH1 and MSH2 genes by mutation screening. They represent a challenge for the clinician and for the genetic counselor, who often cannot use them for the management of Lynch syndr...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adaptor Proteins, Signal Transducing
• Share to Carrier Proteins