Introduction Lynch syndrome(LS)is one of the most common hereditary cancer syndromes,increasing risk for colorectal,endometrial,ovarian and other cancers.It is an autosomal dominant genetic disease caused by pathogeni...Introduction Lynch syndrome(LS)is one of the most common hereditary cancer syndromes,increasing risk for colorectal,endometrial,ovarian and other cancers.It is an autosomal dominant genetic disease caused by pathogenic germline variants in mismatch repair(MMR)genes,including MLH1,MSH2,MSH6,and PMS2,or deletion in the EPCAM gene[1].Pathogenic variants in these genes impair the correction of nucleotide mismatches caused by replication slippage errors,resulting in characteristic microsatellite instability(MSI)in tumors.展开更多
基金supported by the National Cancer Center Climbing Program Fund[NCC202414003].
文摘Introduction Lynch syndrome(LS)is one of the most common hereditary cancer syndromes,increasing risk for colorectal,endometrial,ovarian and other cancers.It is an autosomal dominant genetic disease caused by pathogenic germline variants in mismatch repair(MMR)genes,including MLH1,MSH2,MSH6,and PMS2,or deletion in the EPCAM gene[1].Pathogenic variants in these genes impair the correction of nucleotide mismatches caused by replication slippage errors,resulting in characteristic microsatellite instability(MSI)in tumors.
