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Research on  hMLH1  and  hMSH2  mutations tend to focus on Lynch syndrome (LS) and LS-like colorectal cancer (CRC). No studies to date have assessed the role of  hMLH1  and  hMSH2  genes in mass sporadic CRC (without preselection by MSI or early age of onset). We aimed to identify novel  hMLH1  and  hMSH2  DNA variants, to determine the mutation frequencies and sites in both sporadic and LS CRC and their relationships with clinicopathological characteristics of CRC in Northeast of China. 452 sporadic and 21 LS CRC patients were screened for germline and somatic mutations in  hMLH1  and  hMSH2  genes with PCR–SSCP sequencing. We identified 11  hMLH1  and seven  hMSH2  DNA variants in our study cohort. Six of them were novel: four in  hMLH1  gene (IVS8-16 A>T, c.644 G A T>G T T, c.1529 C A G>C G G and c.1831  A TT> T TT) and two in  hMSH2  gene (−39 C>T, insertion AACAACA at c.1127 and deletion AAG at c.1129). In sporadic CRC, germline and somatic mutation frequencies of  hMLH1 / hMSH2  gene were 15.59% and 17.54%, respectively ( p  = 0.52). Germline mutations present in  hMLH1  and  hMSH2  genes were 5.28% and 10.78%, respectively ( p <0.01). Somatic mutations in  hMLH1  and  hMSH2  genes were 6.73% and 11.70%, respectively ( p =  0.02). In LS CRC, both germline and somatic mutation frequencies of  hMLH1 / hMSH2  gene were 28.57%. The most prevalent germline mutation site in  hMSH2  gene was c.1168  C TT> T TT (3.90%), a polymorphism. Somatic mutation frequency of  hMLH1 / hMSH2  gene was significantly different in proximal, distal colon and rectal cancer ( p  = 0.03). Our findings elucidate the mutation spectrum and frequency of  hMLH1  and  hMSH2  genes in sporadic and LS CRC, and their relationships with clinicopathological characteristics of CRC.

Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population