What is the role of the adenomatous polyposis coli APC protein?

Mutations in the Adenomatous Polyposis Coli (APC) gene are responsible for familial colon cancer and also occur in the early stages of sporadic colon cancer. APC functions in the Wnt signalling pathway to regulate the degradation of beta-catenin (reviewed in refs 1-3).

What protein does the APC gene make?

The APC gene encodes a 312-kDa protein (Fig. 2) that performs diverse cellular functions and localizes to multiple subcellular compartments. Mutations in APC are often frameshifts, insertions or deletions that introduce premature stop codons and lead to the production of a truncated APC protein.

Why is APC a tumor suppressor gene?

Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors. The protein made by the APC gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor….

RNA expression pattern
BioGPS More reference expression data

What is APC mutation?

In 1997, a Johns Hopkins research team found an inherited genetic mutation called APC I1307K. Adenomatous polyposis coli (APC) is a gene that suppresses tumor growth. If the APC gene is defective, it makes the gene unstable and more susceptible to additional changes that may lead to colon and rectal cancers.

What is the most common APC?

The most common alterations in APC are APC Mutation (10.32%), APC R1450* (0.60%), APC T1556fs (0.52%), APC R876* (0.50%), and APC E1309fs (0.39%) [3].

What does APC do in the Wnt pathway?

The adenomatous polyposis coli (APC) protein is a component of the Wnt/β-catenin signaling pathway that negatively regulates cell growth. APC complexes with glycogen synthase kinase-3 (GSK3) and axin. This complex is responsible for targeting free cytosolic β-catenin for ubiquitin-mediated degradation.

Is ATM the same as BRCA?

ATM is the fifth DNA repair gene, together with BRCA1, BRCA2, TP53 and CHEK2 shown to be involved in breast cancer predisposition. Whereas BRCA1, BRCA2 and TP53 are associated with high risks of breast cancer, ATM and CHEK2 are associated with more modest risks (Antoniou and Easton, 2006, this issue).