Loading
Pooling four large studies, over 10,000 people with bowel cancer, showed that testing every tumour finds every case of the commonest inherited bowel cancer syndrome, while the clinical rules then in use missed about one in eight.
A pooled analysis of four cohorts of newly diagnosed colorectal cancer probands recruited between 1994 and 2010 (10,206 patients) examined personal, tumour-related and family characteristics alongside microsatellite instability, mismatch repair immunostaining and germline mutational status. Of 10,206 informative, unrelated probands, 312 (3.1%) were mismatch repair gene mutation carriers. In the population-based cohorts, universal tumour testing had sensitivity 100% and specificity 93.0%, against 87.8% sensitivity for the Bethesda guidelines, 85.4% for the Jerusalem recommendations and 95.1% for a selective strategy based on testing everyone diagnosed at 70 or younger plus older patients meeting the Bethesda guidelines. The selective strategy missed 4.9% of cases but required 34.8% fewer tumour tests and 28.6% fewer germline analyses.
It is the evidence behind universal mismatch repair testing of every colorectal cancer, which is now standard in most guidelines and which, as a by-product, identifies everyone eligible for immunotherapy.
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 MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Lynch syndrome, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2).
Shares VENTANA MMR RxDx Panel, MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), MSI-high (microsatellite instability by PCR or sequencing).
Shares MLH1, MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), Lynch syndrome.
Shares MSH2, Lynch syndrome, Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), Hereditary cancer syndromes.
Shares MSI and mismatch-repair testing, dMMR (mismatch repair deficiency by IHC), MSI-high (microsatellite instability by PCR or sequencing), Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2).