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Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)

✍ Scribed by S. Glasl; L. Papatheodorou; Gustavo Baretton; Ch. Jung; M. Gross

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 159 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200007)16:1<91::aid-humu22>3.0.co;2-a

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By means of PCR-SSCP and direct sequencing, we detected 12 germ-line mutations of hMSH2 or hMLH1 in 37 Japanese hereditary non-polyposis colorectal cancer (HNPCC) kindreds, of whom 15 satisfied the Amsterdam and 22 the Japanese criteria. The germ-line mutation detection rate of hMSH2 was much higher