… MMR gene mutations may be present in germline DNA or can occur as somatic events within
a tumour… rare or novel mutations are found and these can require correlation with IHC and …

… of the tumor being sporadic, MLH1 hypermethylation and/or BRAF … mutation is not 100%
correlated with absence of MLH1 … (LOH) in tumors from patients with germline pathogenic MMR …

… germline pathogenic variants or MLH1 hypermethylation. … whose methylation status is
strongly correlated with MLH1 … of MLH1 promoter hypermethylation over BRAF testing and …

… brain tumors and can be induced by germline or sporadic … the four MLH1-mutant tumors,
complete loss of both MLH1 and … MMR protein was 100% correlated with MMR gene mutation in …

… for the four DNA mismatch repair proteins that underlie … In our population, the overall germline
mutation rate was low, … correlation between BRAF and MLH1 promoter methylation tests in …

… BRAF V600E mutation by IHC and NGS, and twenty cases showed loss of MLH1 protein and
were positive for MLH1 hypermethylation… deleterious germline mutation in one of the MMR …

… a germline mutation but we could not find a statistically significant correlation between familial
history and MMR … of colon cancer and breast cancer demonstrated a mutation in MSH2 (c.…

… associated with germline mutations in the mismatch repair pathway … of a BRAF mutation/MLH1
promoter hypermethylation due to the … population and its correlation with histopathological …

… of EC tumours exhibiting MSI, the relationship between … mutation and MLH1 hypermethylation
have been detected in a LS-related cancer, for example in the case of a heritable germline …

… Germline mutations in MMR genes are associated with … MLH1 promoter methylation and
gender, tumor location, … that BRAF status has no correlation with prognosis for MSI patients (32). …