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Die adenomatöse Polyposis coli wird je nach Anzahl der Adenome in die klassische (FAP), die attenuierte Form (AFAP) und die atypische Form (ATFAP) eingeteilt. Autosomal-dominant vererbte Mutationen im APC-Gen finden sich bei 80% der Patienten mit FAP, autosomal-rezessiv vererbte Mutationen in MUTYH (MUTYH-assoziierte Polyposis, MAP) führen häufig zu einer AFAP. Bei der MAP können neben Adenomen auch...
Background Attenuated familial adenomatous polyposis (AFAP) is characterized by the presence of 10–99 colorectal adenomas. The disease may be associated with mutations in either APC or MUTYH genes. We purposed to evaluate the contribution of adenomatous polyposis coli (APC) and MutY homologue (MUTYH) germline alterations to the AFAP phenotype and to identify genotype/phenotype correlations. Methods...
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