Colorectal Cancer
n596 gene deletion causes hereditary nonpolyposis colorectal cancer
Published in Hematology Week, May 2nd, 2005
According to a study from Denmark, "The diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) is often confirmed by a mutation in one of several mismatch-repair genes, in particular MLH1, MSH2 and MSH6.
"Presymptomatic diagnosis requires the identification of a mutation causing the disease. Three different deletions of a single amino acid codon have previously been published as assumed pathogenic."
"The objective of this study was to determine if an MSH2 3 base pair in-frame deletion (N596del) could be used in presymptomatic screening of at-risk...
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Source: Hematology Week (2005-05-02)
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