DefinitionThis section has been translated automatically.
The APC gene (APC stands for "Regulator Of WNT Signaling Pathway") is a protein-coding gene located on chromosome 5q22.2.
General informationThis section has been translated automatically.
The APC gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes such as cell migration and adhesion, transcriptional activation and apoptosis.
Defects in this gene cause Familial Adenomatous Polyposis (FAP/Gardner syndrome), an autosomal dominant premalignant disorder that usually progresses to malignant tumorigenesis of the intestinal polyps.
Note(s)This section has been translated automatically.
Mutations in the APC gene occur in most colorectal cancers, with disease-associated mutations clustering in a small region called the mutation cluster region (MCR), resulting in a truncated protein product.
LiteratureThis section has been translated automatically.
- Kerr SE et al (2013) APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. J Mol Diagn 15: 31-43.
- Nallamilli BRR et al (2017) Detecting APC gene mutations in familial adenomatous polyposis (FAP). Curr Protoc Hum Genet 92:10.8.1-10.8.16.
- Yang VW (2002) APC as a checkpoint gene: the beginning or the end? Gastroenterology 123: 935-939.
