Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

ABSTRACT:

Background

The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients.

Methods

Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC.

Results

Six

SUBMITTER: Kanter-Smoler G 

PROVIDER: S-EPMC2386495 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature