APC-associated adenomatous polyposis (OMIM #175100) includes familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). In FAP, hundreds to thousands of intestinal, mostly colorectally localized polyps usually occur from adolescence onwards, which can degenerate and lead to carcinomas if left untreated. In addition, the risk of developing further malignant and benign tumors is increased.
\nAFAP is a variant of FAP with significantly fewer polyps and later occurrence of carcinomas.
\nGAPPS is characterized by polyposis in the area of the gastric fundus and an increased risk of gastric carcinomas. The colon is only involved to a limited extent.<\/p>\n<\/div>
Synonyms:<\/p>\n<\/div><\/div><\/div>
–<\/p>\n<\/div><\/div><\/div>
Gene:<\/p>\n<\/div><\/div><\/div>
APC<\/em><\/p>\n<\/div><\/div><\/div><\/div> Gen\u00ade products:<\/p>\n<\/div><\/div><\/div> APC<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Part of the \u03b2-catenin degradation complex in the Wnt signaling pathway<\/p>\n<\/div><\/div><\/div><\/div> Inheritance:<\/p>\n<\/div><\/div><\/div> autosomal-dominant<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> FAP: Incidence Ranges from 1 in 9,000 to 1 in 18,000 Live Births<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div>\n
\nCodon 1309: 20 years,
\nBetween codons 168 and 1580 (excluding 1309): 30 years,
\n5′ of codon 168 and 3′ of codon 1580: 52 years.<\/li>\n\n