| [ Summary ] |
We carried out genetic testing on colorectal cancer patients who fulfilled the modified Amsterdam II criteria. A total of 111 patients with colorectal cancer were screened for genetic alterations in MLH1, MSH2, and MSH6. As a result, 57 deleterious genetic changes were identified in 64 patients, of those 57, 11 exhibited genetic rearrangements encompassing exon(s). A recurrent deletion of the MLH1 exon 5 was found in six patients, suggesting that it may be a founder mutation in Japanese patients. |