Identification of a Novel Splicing Mutation of MSH6 in a Chinese Family with Lynch Syndrome

来源 :湖北省细胞生物学学会2015年会员代表大会暨学术研讨会 | 被引量 : 0次 | 上传用户:ww4102001
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Lynch syndrome (LS),also known as hereditary nonpolyposis colorectal cancer (HNCC),is an autosomal dominant inherited disease.Colorected cancer (CRC) was one of the main Lynch syndrome-associated tumors.In addition to CRC,LS had a high risk of other extracolonic tumors,such as endometrial cancer (EC),ovarian cancer,gastric cancer,intrahepatic cholangiocarcinoma,urological cancer,and skin cancer,which had been associated with potentially germline mutations in a group of DNA mismatch repair (MMR) genes (MLH1,MSH2,MSH6,PMS1 and PMS2).LS was mainly caused by the mutation of MLH1 and MSH2 genes.In a minority of cases,mutations have been described in other MMR genes like PMS1 and PMS2.
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