Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer.


Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common cancer syndromes. The cancer susceptibility is dominantly inherited and associated with germline mutations in mismatch repair (MMR) genes. An inherited defect in one allele of a MMR gene and an acquired defect in the other allele leads to hypermutability associated with marked… (More)

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