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Showing 2 results for Familial Adenomatous Polyposis
Germline mutation at codon 1309 of the adenomatous polyposis coli gene and exteracolonic manifestations in familial adenomatous polyposis
Faegheh Behboudi Farahbakhsh, Hossein Maghsoudi, Hamid Asadzadeh Aghdaei , Ehsan Nazemalhosseini-Mojarad,
Volume 75, Issue 4 (7-2017)
Abstract
Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evaluate the germline mutation at codon 1309 of the APC gene and its association with extracolonic manifestations in Iranian patients with FAP.
Methods: This Cross-sectional study was conducted at the Gastroenterology and Liver Diseases Research Center, Taleghani Hospital, Tehran, Iran from July 2012 to February 2015. In this study, thirty-three patient with FAP was examined. Demographic and clinical data were gathered from patients. In addition, peripheral blood samples were collected to study the most common mutations of the APC gene and bidirectional sequencing was carried out after genomic DNA extraction by salting out method. Primers were designed by GeneRunner version 5.0.4 (http://www.generunner.com). The samples were run on an applied biosystems 3130XL genetic analyzer. The results were analyzed by SPSS software, version 23 (IBM, Armonk, NY, USA).
Results: After analyzing the mutation cluster region (MCR), we have identified five germline mutations with 5bp deletion at codon 1309 of the APC gene (c.3927_3931delAAAGA), that it is equivalent to 15.2% (5.33). This mutation has been known as a small deletion, that it is a variant of frameshift mutation. Mutation at codon 1309 has significant association with clinical and pathological features including the number of polyps (P=0.001), duodenum demonstration (P=0.008), fundic gland polyp (P=0.002) and congenital hypertrophy of the retinal pigment epithelium (P=0.021).
Conclusion: The analysis of the findings has shown that mutation in Codon 1309 of adenomatous polyposis coli gene may be associated with severe polyposis and extracolonic manifestations. In conclusion, there may be a correlation between a specific germline mutation and the extracolonic manifestations.

Familial adenomatous polyposis, diagnosis and surveillance strategies: review article
Sima Sedighi, Maliheh Moradzadeh, Mehrdad Aghaei, Ashraf Mohamadkhani, Mohammad Hassan Jokar,
Volume 78, Issue 7 (10-2020)
Abstract
Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine, and duodenal polyps; cutaneous wounds (lipomas, fibromas, and epidermoid cysts); desmoid tumors; osteomas; nephroderma retinal pigment epithelium, including hepatoblastoma and thyroid cancers; and pancreas, biliary system, and brain cancer. Familial adenomatous polyposis is characterized by >100 polyps in the colon that are often observed on the left side of the colon and rectum. A germline mutation in the adenomatous polyposis coli gene that can be clinically and genetically diagnosed is responsible for this disease. Several methods are available for testing the adenomatous polyposis gene. Whole-gene sequencing of all adenomatous polyposis coli exons and exon-intron boundaries with maximum sensitivity for determining adenomatous polyposis coli mutations is not affordable. Another method, the protein shortening assay, correctly identifies 80% of the mutations in families who show familial adenomatous polyposis and is less expensive than complete gene sequencing. The application of a COX-2 inhibitor for chemical prevention is limited in patients showing familial adenomatous polyposis because of cardiovascular toxicity. Aspirin does not negatively impact cardiovascular diseases and is even used as primary pharmacotherapy in patients who demonstrate cardiovascular risk factors.   After 55.7 months of the diagnosis in hereditary CRC carriers, the incidence of cancer can be decreased by a dose of 600 mg/day aspirin for 25 months. After diagnosis, patients should undergo prophylactic proctocolectomy or ileoanal pouch. Undiagnosed patients having a family history of FAP must be referred to a genetic counselor and enrolled in optimal genetic and clinical surveillance programs. Recent advancements in endoscopic technology, e.g. high-resolution endoscopy, double-balloon endoscopy, and capsule endoscopy have enabled the comprehensive study of the gastrointestinal tract. Despite the limited evidence, more studies on these novel endoscopic technologies may modify the surveillance strategies for FAP patients.

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