Mismatch Repair (MMR) gene alteration and BRAF V600E mutation are potential predictive biomarkers of immune checkpoint inhibitors in MMR-deficient colorectal …

IH Sahin, S Goyal, Y Pumpalova, MB Sonbol… - The …, 2021 - academic.oup.com
… the presence of BRAF V600E mutation correlated with worse … with germline mutations present
with left-sided colon cancer at a … impact of BRAF V600E mutation and MLH1/PMS2 loss on …

[HTML][HTML] Clinical and molecular characterisation of hereditary and sporadic metastatic colorectal cancers harbouring microsatellite instability/DNA mismatch repair …

R Cohen, O Buhard, P Cervera, E Hain… - … Journal of Cancer, 2017 - Elsevier
… /or MLH1 hypermethylation and no MMR germline mutation. … considering collinearity among
variables with a correlation matrix. … of BRAF mutation and MLH1 methylation, nine Lynch-like …

[HTML][HTML] DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein …

S Mäki-Nevala, S Valo, A Ristimäki, V Sarhadi… - …, 2019 - thelancet.com
… that tumor initiation may precede the loss of mismatch repair … in the germline, retained mismatch
repair protein expression in … “C” of MLH1 (MLH1-I probe); hypermethylation of this region …

DNA mismatch repair in cancer

M Baretti, DT Le - Pharmacology & therapeutics, 2018 - Elsevier
… In this review we will describe the relationship between MMRhypermethylation of MLH1
rather than germline mutations in … , IHC for MMR proteins, and BRAF mutation screening (as …

Mismatch repair deficiency testing in clinical practice

N Buza, J Ziai, P Hui - Expert review of molecular diagnostics, 2016 - Taylor & Francis
tumors without BRAF mutation should be followed up by germline MLH1 testing, regardless
of the MLH1 methylation … occurrence – correlation between the germline mutation status and …

Patterns of germline and somatic mutations in 16 genes associated with mismatch repair function or containing tandem repeat sequences

SC Chang, YT Lan, PC Lin, SH Yang, CH Lin… - Cancer …, 2020 - Wiley Online Library
… V600E mutations (9 had somatic mutations of MMR genes) in … BRAF mutations are correlated
with MLH1 methylation,40, … MSI tumors could develop through MLH1 promoter methylation

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

S Li, D Qian, BA Thompson, S Gutierrez… - Journal of medical …, 2020 - jmg.bmj.com
… of germline pathogenic variants in other non-MMR cancer … Given that MSI and IHC are
highly correlated, we generated … integrating BRAF mutation or MLH1 methylation status in our …

BRAF Mutations Are Associated with Poor Survival Outcomes in Advanced-stage Mismatch Repair-deficient/Microsatellite High Colorectal Cancer

E Tan, J Whiting, H Xie, I Imanirad, E Carballido… - The …, 2022 - academic.oup.com
germline mutations versus sporadic mutations, which include but not limited to those with
BRAF V600E mutation with MLH1 promoter hypermethylation. … MMR-D tumors, BRAF mutations

Prevalence of recurrent oncogenic fusion in mismatch repair-deficient colorectal carcinoma with hypermethylated MLH1 and wild-type BRAF and KRAS

J Wang, Y Yi, Y Xiao, L Dong, L Liang, L Teng… - Modern …, 2019 - nature.com
… expression and no mismatch repair germline mutations were … mutations of MMR genes,
somatic mutations of driver genes, … , tumor neoantigen burden has recently been correlated with …

[HTML][HTML] Amplicon-based NGS test for assessing MLH1 promoter methylation and its correlation with BRAF mutation in colorectal cancer patients

SIO da Silva, TA Domingos, BEC Kupper… - Experimental and …, 2023 - Elsevier
… by germline mutations in mismatch repair (MMR) genes (MLH1… for both MLH1 methylation
and BRAF mutation we had germline … Lynch Syndrome with a germline PV in MLH1 gene. One …