Prevalence of hereditary non-polyposis colorectal cancer (HNPCC) in Czech patients with endoscopic diagnosis of colorectal cancer
Abstrakt
Background and Study Aims: The hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by germline mutations in MMR genes and predisposed individuals to cancers of the colon and other specific sites. We assessed the prevalence of HNPCC in Czech patient with endoscopic diagnosis of colorectal cancer.
Patient and Methods: We examined 2,464 patients by total colonoscopy. Patient with CRC suspected of HNPCC we screened for germline mutations of mismatch repair genes hMLH1 and hMLH2.
Results: Out of a total of 2,464 patients examined 128 were found to have CRC. We found germline mutation in hMLH1 gene in two patients (1.5%).
Conclusions: The occurrence of hereditary cancer in Czech patients is lower than suspected, probably in accordance with a high share of sporadic colorectal cancer.