(High Throughput Sequencing)
Lynch syndrome is a highly permeable, autosomal dominant susceptibility syndrome, which is composed of mismatch repair genes (especially MLH1, MSH2, MSH6 or PMS2). Single allele germline mutation, or epigenetic silencing of adjacent MSH2 genes caused by germline deletion in EPCAM. Lynch syndrome can cause colorectal cancer and tumors in other parts (including endometrium, ovary, stomach, small intestine, liver and gallbladder, upper urethra, brain and skin).Its risk is higher than that of normal people.
NCCN guidelines recommend that all patients with newly diagnosed colorectal cancer should be screened by immunohistochemistry or microsatellite instability detection of four MMR proteins (MSH2, MSH6, PMS2, MLH1) in tumor tissue.For dMMR patients identified by immunohistochemistry, it is suggested to further detect germline mutations of protein expression deletion genes.For patients with microsatellite instability determined by MSI method, germline mutation detection of MSH2, MSH6, PMS2, MLH1 and EPCAM genes is recommended.
|MSH2, MSH6, PMS2, MLH1, EPCAM||Coding region, exon intron junction region|
Lynch syndrome gene screening can be used to guide clinicians for patient management At the same time, the V600E mutation of BRAF gene was detected to assist the screening of Lynch syndrome in patients with colorectal cancer.
1. MSI was used to detect patients with microsatellite instability and suspected Lynch syndrome related tumors.
2.Tumor patients with dMMR detected by immunohistochemistry.
Simple Operation: With patented RingCap® Technology, library construction can be completed in only two steps.
Rapid Detection: The library construction takes only 3.5 hours.
High Sensitivity: Sequencing depth can be above 500 x, sensitivity up to 5%.
1. Can detect five genes related to Lynch syndrome in coding region, exon and intron junction region at one time.
2. The detection of V600E mutation of BRAF gene can be used as an exclusive diagnostic basis for Lynch syndrome.