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Novel germline mutations ofhMSH2in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers

✍ Scribed by S. Okamura; K. Koyama; Yasuo Miyoshi; Morito Monden; Motohisa Takami


Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
207 KB
Volume
43
Category
Article
ISSN
1435-232X

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Mutations in hMSH2 and hMLH1 genes were analyzed in patients from 11 Japanese families that had been diagnosed as carrying hereditary nonpolyposis colorectal cancer (HNPCC) by clinical examination. Germ line mutations of hMSH2 gene were identified in 5 independent families in which colorectal (87% o

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## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal disorder caused by mutations in DNA mismatch repair (MMR) genes. Tumors of the HNPCC‐spectrum are associated with microsatellite instability (MSI) and loss of MMR protein expression. Lymphomas are not considered to be HNP