Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer

作者: Ying Yuan , Hye-Jung Han , Shu Zheng , Jae-Gahb Park

DOI: 10.1007/BF02235756

关键词: Colorectal cancerGeneticsFrameshift mutationOncologyMedicineSingle-strand conformation polymorphismPoint mutationGermline mutationMutationMutation rateMissense mutationInternal medicine

摘要: PURPOSE: The present study was designed to determine the frequency of germline mutations in hMLH1 and hMSH2 genes 31 families suspected having hereditary nonpolyposis colorectal cancer who do not fulfill criteria International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer but whom a genetic basis for colon is strongly 45 patients with sporadic early-onset developed before age 40 years without any family history cancer. METHODS: Genomic DNAs were prepared from peripheral blood samples tested. All coding exons exon-intron borders these two screened, first polymerase chain reaction-single-strand conformation polymorphism method, followed by sequencing DNA fragments displaying an abnormal single-strand pattern. RESULTS: In cancer, we found six different seven unrelated families, including one missense mutation three frame-shift gene gene. Totally, 23 percent, 16 percent 7 hMSH2, respectively. Only identified (2 percent) detection rate significantly higher than that (P<0.05). CONCLUSION: Our definition useful diagnosis identifying those need presymptomatic diagnosis. results indicate it may be important perform testing On other hand, only detected low

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