Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis

摘要: Germ-line mutations in the adenomatous polyposis coli (APC) gene result familial (APC), an inherited syndrome that predisposes affected individuals to early onset of colorectal cancer. Somatic APC also have been detected sporadic colon tumors. We used single strand conformational polymorphism (SSCP) analysis scan a region frequently is mutated both and Four truncating were found between codons 1060 1327 17 68 unrelated individuals. Fourteen these persons carried either two previously described five-nucleotide deletions which represent about 20% pedigrees. Patients with this exon 15 develop classic colonic phenotype multiple, diffuse adenomas developing by second or third decade. However, density extracolonic disease manifestations associated are variable among identical mutations.