APC

About APC

APC Adenomatous Polyposis Coli on chromosome 5q22.2 is a tumor suppressor in the WNT signaling pathway. Its protein forms a destruction complex with axin, CK1, and GSK3 beta that phosphorylates beta catenin and targets it for degradation, preventing inappropriate activation of WNT target genes. APC also binds microtubules and contributes to cell migration and chromosome segregation. Germline variants cause familial adenomatous polyposis, an autosomal dominant condition in which hundreds to thousands of colorectal adenomas develop, usually beginning in adolescence. Without removal of the colon, progression to colorectal cancer is nearly inevitable, typically by middle age. Attenuated FAP involves fewer than 100 polyps and later cancer onset. Extracolonic features include duodenal adenomas, desmoid tumors, osteomas, dental abnormalities, and congenital hypertrophy of the retinal pigment epithelium, and Gardner syndrome describes the combination with prominent osteomas and soft tissue tumors. Desmoid tumors and duodenal cancer are leading causes of illness after colectomy. The gene was identified in 1991. Somatic APC mutation is the initiating event in most sporadic colorectal cancers, the first step of the adenoma to carcinoma sequence described by Bert Vogelstein and colleagues.