What is APC I1307K?
Adenomatous polyposis coli is a tumor-suppressing gene that plays an important role in the carcinogenesis of colorectal cancer. If the APC gene is defective it fails to suppress colon cancer development. The mutation appears to make the gene unstable and prone to acquire mutations during normal cell division. The APC I1307K mutation is found in Ashkenazi Jews and has not been found in anyone who is not of Ashkenazi descent. This gene mutation causes a substantial increase in the risk of colorectal cancer (approximately 18–30% lifetime risk). Studies of APC I1307K are ongoing to better understand its role and implications.
