Genetic Testing of Familial Adenomatous Polyposis in Tohoku District of Japan

Abstract

Familial adenomatous polyposis（FAP） is a hereditary syndrome to show autosomal dominant inheritance, and causative gene is APC gene.　Subjects with FAP constitute a very high risk group for colorectal cancer and lifetime risk of colorectal cancer goes over 95% throughout the life. Genotype-phenotype correlations between APC gene and FAP have been elucidated gradually.　We examined the mutation of APC gene in 45 FAP kindred that were registered with Tohoku Familial Tumor Association.