Familial Adenomatous Polyposis

Familial Adenomatous Polyposis: Case Report and Literature Review

“…Early screening programs are fruitful if adequate genetic counseling is carried out with the standardization of clinical suspicion criteria. For people with FAP or a family history of it, genetic counseling aims to provide insight into the disease's inheritance pattern to help them make an informed decision about whether or not to accept an offer of genetic testing [ 1 ]. Screening recommendations depend on the medical society, where European guidelines suggest that the presence of a personal history of more than 25 colorectal adenomas, a personal history of more than 10 colorectal adenomas before the age of 50, a personal history of three adenomas in those under 30 years of age, a history family of any of the adenomatous polyposis syndromes, or presence of a family history of early-onset CRC are some criteria that suggest the idea of conducting a genetic study (APC and MUTYH gene mutation analysis, being a medium-throughput DNA sequence analysis the gold standard) [ 4 , 5 ].…”

“…Familial adenomatous polyposis (FAP) is a rare genetic disease with autosomal inheritance caused predominantly by germline mutations in the adenomatous polyposis coli (APC) gene, with a family history in 70-80% of cases [ 1 ]. Clinical diagnosis of the “classical FAP” is made with 100 or more adenomatous polyps in the colon and rectum or fewer than 100 polyps with at least one family history of confirmed FAP [ 2 ].…”

Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

“…Mutations in the APC gene 697-1224 codons are associated with a 3-fold higher risk of brain tumor and a 13-fold higher risk of medulloblastoma [43]. Duodenal adenomas have a 3-4 times higher risk of developing if the mutation in APC is between codons 976-1067 [44].…”