BACKGROUND AND OBJECTIVE: Familial adenomatous polyposis (FAP) is a colorectal cancer caused by the mutation in the APC gene, inherited as an autosomal dominant. In patients with FAP, adenomas are formed after the age of 20, which develop malignant tumors one or two decades later. The aim of this study was to determine the mutation in a part of exon 15 of APC gene in patients with familial adenomatous polyposis in Gilan province.
METHODS: In this study, a nonsignificant mutation (c.3184C > T, p.Q1062X) was identified in a person with a classic FAP with severe polyposis.
FINDINGS: In this study one nonsense mutation (c.3184C>T, p.Q1062X) was identified in a classic FAP patient with severe polyposis.
CONCLUSION: The results of the study showed that severe polyposis was associated with a nonsignificant mutation that resulted in the production of short APC protein in a person with FAP.