Phenotypic and Psychosocial Study of the APC I1307K Mutation
Aims/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.
Diagnosis: Men and women of Ashkenazi Jewish ancestry with a personal history of colon cancer or an individual who is of Ashkenazi Jewish ancestry has a first degree relative with colon cancer
Principal Investigator: Gershon Locker, MD and Henry T. Lynch, MD
Open to Enrollment: No
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.