Article
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.
Familial cancer - 1 Jun 2010
Goldberg Yael, Porat Rinnat M, Kedar Inbal, Shochat Chen, Galinsky Daliah, Hamburger Tamar, Hubert Ayala, Strul Hana, Kariiv Revital, Ben-Avi Liat, Savion Moran, Pikarsky Eli, Abeliovich Dvorah, Bercovich Dani, Lerer Israela, Peretz Tamar
Abstract excerpt
Mutations in DNA mismatch repair genes underlie lynch syndrome (HNPCC). Lynch syndrome resulting from mutations in MSH6 is considered to be attenuated in comparison to that caused by mutations in MLH1 and MSH2, thus more likely to be under diagnosed. In this study we report of a common mutation in the MSH6 gene in Ashkenazi Jews. Genetic counseling and diagnostic work-up for HNPCC was conducted in families who...
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