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- W2433012708 abstract "The story of the molecular genetics of HNPCC is one of astonishingly rapid achievements. In just 16 months, from May 1993 to September 1994, four different genes, namely hMSH2, hMLH1, hPMS1 and hPMS2 have been identified and demonstrated to be associated with the disease. Their cloning was facilitated by the finding that tumor cells in HNPCC patients display a hypermutability of DNA short tandem repeats (microsatellite instability). In fact, HNPCC associated genes are the human counterparts of genetic elements known to control the fidelity of DNA replication in lower organisms. So far, more than 50 germline mutations of hMSH2 and hMLH1 genes have been reported in HNPCC kindreds. In addition, somatic mutations have been documented in hereditary as well as sporadic cancers. Unfortunately, the molecular diagnosis of HNPCC is hampered by the lack of mutational hot spots and of clearly defined genotype-phenotype correlations and different screening methods are to be employed for the analysis of affected and at-risk individuals." @default.
- W2433012708 created "2016-06-24" @default.
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- W2433012708 date "1996-03-01" @default.
- W2433012708 modified "2023-10-03" @default.
- W2433012708 title "Molecular Genetics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC)" @default.
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- W2433012708 doi "https://doi.org/10.1177/030089169608200206" @default.
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