I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer

Familial colorectal cancer (FCC) is a hereditary form of colorectal cancer that accounts for 15-50% of all colorectal cancers (1,2). FCC patients generally have one or two family members affected with colon polyps or cancer. A mutation (I1307K) in the APC gene has been associated with colorectal cancer in Ashkenazi Jews (3). This specific mutation is detected in approx 6% of the Ashkenazic Jewish population. The frequency increases to about 28% in Ashkenazim with a family history of colorectal cancer. A person carrying this mutation will have a twofold increased risk, over the general Ashkenazic Jewish population, of developing colorectal cancer in his or her lifetime (3). This risk is estimated to be approx 18-30% (3). Screening for this mutation is therefore important preventative care in this high-risk population.