APC Mutation Detection Kit with Next Generation Sequence Analysis
Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome characterized by the development of thousands of adenomatous colonic polyps beginning at an average age of 16 years (7-36 years). Untreated patients develop colon cancer at an average age of 39 years (34-43 years).
A definite diagnosis of the FAP cases, which are clinically diagnosed with characteristic symptoms and findings, can be established by determining the heterozygous pathogenic variant in the APC gene.
The mutations in the APC gene are also responsible for the “atenue FAP” and “GAPPS: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach” clinical manifestations, other than the FAP.
In the genetic diagnosis of the FAP disease, a responsible mutation can be detected in about 90% of the cases by sequence analysis of the coding regions of the APC gene.