Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC.

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with mutation in the adenomatous polyposis coli (APC) gene, a tumour suppressor located on chromosome 5q21. Attenuated familial adenomatous polyposis (AFAP) is a variant associated with fewer and later onset of colon polyps. AFAP-associated APC mutations have largely been found before codon 157, in exon 9 or after codon 1595. We...

Topics

• Adenomatous Polyposis Coli
• Adult
• Colectomy
• Humans
• Male
• Microfilament Proteins
• Mutation
• Robotic Surgical Procedures
• Treatment Outcome