Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)

Authors

  • Marie Luise Bisgaard,

    1. The Danish Polyposis Register, Department of Surgical Gastroenterology 435, Hvidovre University Hospital, Hvidovre, Denmark
    2. Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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  • RASMUS S. Ripa,

    Corresponding author
    1. Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    • Medical Department B 2014, HS Rigshospitalet, Copenhagen University Hospital, 9 Blegdamsvej, DK-2100 Copenhagen O, Denmark
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  • Steffen Bülow

    1. The Danish Polyposis Register, Department of Surgical Gastroenterology 435, Hvidovre University Hospital, Hvidovre, Denmark
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Abstract

Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24′ previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3′ region of the gene showed great variance in phenotypic presentation. © 2004 Wiley-Liss, Inc.

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