[Large genomic deletions of mismatch repair genes in Chinese patients with hereditary nonpolyposis colorectal cancer].

Objective: To gain an insight into large genomic deletions in mismatch repair genes MSH2 and MLH1 in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) patients in order to improve genetic detections of HNPCC kindreds.

Methods: Fourteen peripheral blood DNA samples were obtained from 14 unrelated HNPCC patients, and fluorescent labeled quantitative multiplex PCR was used to detect large genomic deletions in MSH2 and MLH1 genes.

Results: One of the fourteen probands, a man, was found to have MSH2 exon 1-7 deletions.