Article
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
Gastroenterology - 1 Jun 2011
Mukherjee Bhramar, Rennert Gad, Ahn Jaeil, Dishon Sara, Lejbkowicz Flavio, Rennert Hedy S, Shiovitz Stacey, Moreno Victor, Gruber Stephen B
Abstract excerpt
BACKGROUND & AIMS: The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. Estimates of age-specific cumulative risk and lifetime risk for colorectal cancer (CRC) and endometrial cancer (EC) specific to carriers of this mutation are not available. METHODS: We studied 27 families with MSH2 A636P gene mutations identified in Israel; 13 were...
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