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 …

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

[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 …

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

DNA mismatch repair proteins: scientific update and practical guide

AC Bateman - Journal of clinical pathology, 2021 - jcp.bmj.com
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 …

Molecular basis of mismatch repair protein deficiency in tumors from Lynch suspected cases with negative germline test results

A Olkinuora, A Gylling, H Almusa, S Eldfors, A Lepistö… - Cancers, 2020 - mdpi.com
germline mutation of DNA mismatch repair (MMR) genes. … by somatic MLH1 methylation
and not having tumor tissues … A similar relationship exists between MLH1 (primary protein) …

[HTML][HTML] Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors

H Kim, KY Lim, JW Park, J Kang, JK Won, K Lee… - Laboratory …, 2022 - Elsevier
… 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 …

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 …

DNA Mismatch Repair Proteins and BRAF V600E Detection by Immunohistochemistry in Colorectal Cancer Demonstrates Concordance with Next Generation …

J Yambert, LA Henricksen, J Clements… - Journal of Molecular …, 2022 - mdpi.com
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

Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers

DG Evans, F Lalloo, NAJ Ryan, N Bowers… - Journal of Medical …, 2022 - jmg.bmj.com
germline pathogenic variants or MLH1 hypermethylation. … whose methylation status is
strongly correlated with MLH1 … of MLH1 promoter hypermethylation over BRAF testing and …