Colon Cancer

The Center for Medical Genetics has established strong collaborative partnerships in the area of colon cancer research with outstanding researchers both within the NorthShore University HealthSystem system and in the broader genetics research community. 

Phenotypic and Psychosocial Study of the I1307K Mutation

We looked at special characteristics of colorectal cancer and related malignancies associated with the APC I1307K mutation and determined whether it is clinically worthwhile to do genetic screening in the Ashkenazi Jewish population.

Investigators

Principal Investigators:  Gershon Y. Locker, MD, Henry T. Lynch, MD
Co-Investigators:  Karen Kaul, MD, PhD

Capsule

The I1307K mutation has been found in six to seven percent of all Ashkenazi Jews, ten percent of Ashkenazim with colorectal cancer and twenty-eight percent of Ashkenazim with both colorectal cancer and a family history of the disease. We compared individuals affected with colorectal cancer who have the I1307K mutation to those affected, but who do not have the mutation. Study participants received genetic counseling and testing services free of charge.

Study Participant Recruitment & Eligibility

Recruitment Closed

Outcomes

Of the 215 enrolled patients, 26 (12.1%) tested positive for I1307K mutation. We could find no increased risk of other common malignancies in I1307K carriers or in their family members.  Colorectal cancers in I1307K carriers do not appear to have distinguishing characteristics. Although the APC I1307K mutation is common in Ashkenazi Jews, there is no role for routine screening in Jewish individuals, nor in those with a personal history of colorectal cancer. 

Publications

Locker GY. Kaul K. Weinberg DS. Gatalica Z. Gong G. Peterman A. Lynch J. Klatzco L. Olopade OI. Bomzer CA. Newlin A. Keenan E. Tajuddin M. Knezetic J. Coronel S. Lynch HT. The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features. Cancer Genetics & Cytogenetics. 169(1):33-8, 2006.

Locker GY. Lynch HT. Genetic factors and colorectal cancer in Ashkenazi Jews. Familial Cancer. 3(3-4):215-21, 2004.