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Some bowel cancers switch off large numbers of genes by chemical tagging. This study settled a long argument by showing that those tumours are a genuinely distinct group, that they nearly all carry a BRAF mutation, and that they are where sporadic loss of the DNA spell-checker comes from.
A systematic, stepwise screen of 195 CpG island methylation markers using MethyLight technology was performed on 295 primary human colorectal tumours, involving 16,785 separate quantitative analyses. CIMP-positive tumours were shown to represent a distinct subset, encompassing almost all cases of tumours with BRAF mutation (odds ratio 203). Sporadic cases of mismatch repair deficiency occurred almost exclusively as a consequence of CIMP-associated methylation of MLH1. The authors proposed a five-marker panel to classify CIMP-positive tumours.
It is the molecular definition of the serrated route and the reason BRAF V600E is used as a practical surrogate for sporadic rather than inherited MLH1 loss.
Shares MLH1, MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Lynch syndrome.
Shares MLH1, MSI and mismatch-repair testing, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), Mismatch repair & microsatellite instability.
Shares Nature Genetics, Lynch syndrome, Epigenetic reprogramming, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2).
Shares MLH1, MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Lynch syndrome.
Shares MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR).
Shares BRAF V600E (and V600K), MSI and mismatch-repair testing, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), Mismatch repair & microsatellite instability.
Shares Epigenetic reprogramming, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), Mismatch repair & microsatellite instability, Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR).
Shares MLH1, MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Lynch syndrome.