Article
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
Journal of medical genetics - 1 Aug 2011
Morak Monika, Koehler Udo, Schackert Hans Konrad, Steinke Verena, Royer-Pokora Brigitte, Schulmann Karsten, Kloor Matthias, Höchter Wilhelm, Weingart Josef, Keiling Cortina, Massdorf Trisari, Holinski-Feder Elke
Abstract excerpt
BACKGROUND: A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ~10-15% of cases of suspected Lynch syndrome, no disease-causing mechanism can be detected. METHODS: Oligo array analysis was performed to...
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