GENE MUTATION AND TUMOR
The protein encoded by the MLH1 gene is involved in DNA mismatch repair. The methylation of the MLH1 promoter is commonly found in sporadic microsatellite instability tumors including colorectal cancer and endometrial carcinoma, which is related to the loss of MLH1 protein expression. Methylation of the MLH1 gene promoter is rarely found in Lynch syndrome. Therefore, MLH1 gene methylation analysis can be used to distinguish sporadic and hereditary colorectal cancer and endometrial carcinoma in highly unstable microsatellite tumors. In endometrial carcinoma, MLH1 gene methylation is highly aggressive and need to be treated positively.
colorectal cancer screening
MLH1 gene methylation.
MLH1 Gene Methylation
1. Presence of MLH1 hypermethylation is consistent with sporadic cancer.
2. In endometrial carcinoma with dMMR, MLH1 hypermethylation were a subgroup with a poorer prognosis than suspected-LS.
3. In endometrial carcinoma patients with MLH1 methylated versus Lynch-like, pembrolizumab show poorer ORR，and shorter OS and PFS.
Applicable people: Patients with colorectal cancer and endometrial carinoma.
MLH1 gene methylation
The positive methylation of the MLH1 gene promoter region indicates that the loss of MLH1 gene expression is due to epigenetic modification rather than genetic mutation, which suggest a lower possibility of Lynch syndrome. It is recommended to combine clinical information and family history for comprehensive analysis.
FEATURES & ADVANTAGES
1. High Sensitivity: Sensitivity can detect as low as 1% gene methylation status.
2. Ease of Use: Based on technology PAP-ARMS®, one step detection in 90 mins.
3. Great versatility: Validated on the most common qPCR machines with stable results.
1.Nucleic Acid Extraction
3.Set up qPCR