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

✍ Scribed by Marie Luise Bisgaard; RASMUS S. Ripa; Steffen Bülow

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
26 KB
Volume
23
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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