Article
The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone.
Familial cancer - 1 Jan 2006
McVety Susan, Li Lili, Thiffault Isabelle, Gordon Philip H, Macnamara Elizabeth, Wong Nora, Australie Karlene, Kasprzak Lidia, Chong George, Foulkes William D
Abstract excerpt
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome caused by a mutation in one of the mismatch repair genes, most frequently MLH1 or MSH2. The rate of mutation detection is influenced by many factors, including the diagnostic methods used. Large deletions, which occur frequently in MLH1 and MSH2, are not detected by exon-by-exon screening methods. Here, we describe three...
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