A636P is associated with early-onset colon cancer in Ashkenazi Jews

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• 作者：Guillem ; José ; G. ; Rapaport ; Beth S. ; Kirchhoff ; Tomas ; Kolachana ; Prema ; Nafa ; Khedoudja ; et. al.
• 刊名：Journal of the American College of Surgeons
• 出版年：2003
• 出版时间：February, 2003
• 年：2003
• 卷：196
• 期：2
• 页码：222-225
• 全文大小：69.8 K

文摘

Hereditary predisposition to colorectal cancer most often manifests itself as familial adenomatous polyposis from mutations of APC, or hereditary nonpolyposis colorectal cancer, resulting from mutations of MSH2, MLH1, MSH6, or other genes. Previously, we described a rare founder mutation MSH2*1906C > G in Ashkenazi Jews that was found in 8 of 1,345 individuals (0.6 % ) of Ashkenazi descent with colorectal cancer. This study seeks to characterize the proportion of individuals of Ashkenazi heritage with very early-onset colon cancer (diagnosed at age 40 or younger) that could be attributed to MSH2*1906C>G.