I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer
1Molecular Genetics Laboratory, Dianon Systems Inc., Stratford, CT.
Methods in Molecular Medicine
|February 15, 2011
Summary
Familial colorectal cancer (FCC) is a hereditary condition. A specific APC gene mutation (I1307K) increases cancer risk in Ashkenazi Jews, highlighting the need for targeted screening.
Area of Science:
- Genetics
- Oncology
- Preventative Medicine
Background:
- Familial colorectal cancer (FCC) represents a significant portion (15-50%) of all colorectal cancers.
- FCC is often characterized by a family history of colon polyps or cancer.
- A specific APC gene mutation, I1307K, is linked to increased colorectal cancer risk in Ashkenazi Jews.
Purpose of the Study:
- To investigate the prevalence and implications of the APC I1307K mutation in Ashkenazi Jewish populations.
- To emphasize the importance of genetic screening for familial colorectal cancer in this at-risk group.
Main Methods:
- Genetic analysis to detect the APC I1307K mutation.
- Epidemiological data analysis to determine mutation frequency and associated cancer risk.
Main Results:
- The APC I1307K mutation is found in approximately 6% of the Ashkenazi Jewish population.
- This mutation's frequency rises to about 28% in Ashkenazim with a family history of colorectal cancer.
- Carriers of the APC I1307K mutation have a twofold increased lifetime risk of developing colorectal cancer, estimated at 18-30%.
Conclusions:
- The APC I1307K mutation is a significant genetic risk factor for colorectal cancer in Ashkenazi Jews.
- Screening for this mutation is crucial for preventative care in this high-risk population.
- Early detection and genetic counseling can aid in managing familial colorectal cancer risk.
