Article
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
Human mutation - 1 Jan 1996
Jeon H M, Lynch P M, Howard L, Ajani J, Levin B, Frazier M L
Abstract excerpt
We examined 18 unrelated individuals who have colorectal cancer or cancers associated with the HNPCC syndrome and have a family history of cancer for mutations in exon 13 of the hMSH2 gene. Two of the 18 individuals had the same previously unreported single-base deletion in codon 705 of hMSH2, resulting in a frame-shift mutation. Two other individuals had a T-to-C base change in the intron sequence at -6 position...
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