Replication error in colorectal carcinoma: association with loss of heterozygosity at mismatch repair loci and clinicopathological variables.

摘要: Instability of microsatellite DNA or replication error (RER) is characteristic tumours caused by mismatch repair (MMR) deficiency. Germline mutations in MMR genes are associated with Hereditary non-polyposis colorectal carcinoma (HNPCC) and somatic these also found a substantial fraction cancers (CRC). In this study we concurrently screened for the RER phenotype loss heterozygosity (LOH) at gene loci. The was evident 47/197 (24%) tumours. more commonly detected young patients (< 50 years) located proximal colon. positively LOH hMSH2/hMSH6 loci on chromosome 2p, where observed 46% RER+ hMLH1 hPMS1 frequent younger years). not clinicopathological parameters, such as Duke's stage tumour differentiation (grade). better overall survival, but there trend towards significance when multivariate analysis used. This indicates that generate less aggressive phenotype, raises question about being useful indicator prognosis CRC patients.