Article
Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.
Mutation research - 15 Feb 2005
Ripa Rasmus S, Katballe Niels, Wikman Friedrik P, Jäger Anne Charlotte, Bernstein Inge, Orntoft Torben, Schwartz Marianne, Nielsen Finn Cilius, Bisgaard Marie Luise
Abstract excerpt
The diagnosis of hereditary non-polyposis 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...
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