Asper Biotech is a genetic testing company

Hereditary Non-Polyposis Colon Cancer (HNPCC), also called Lynch Syndrome, is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin). Lynch syndrome is inherited in an autosomal dominant manner and it is associated with germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have a lifetime risk of up to 80% for colorectal cancer, 20-60% risk of endometrial cancer, as well as other tumors. Lynch syndrome is associated with early onset of cancer, the average age of diagnosis is 45 years. 

Referral for molecular testing of Lynch syndrome:

1.    Tumour tissue analysis to evaluate the MMR proteins expression by IHC and DNA microsatellite instability by MSI testing is suggested for the individuals meeting Amsterdam II/Bethesda criteria.
2.    If absence of the MLH1/PMS2 proteins expression is observed by IHC, methylation analysis of the MLH1 gene promoter and/or testing of the somatic BRAF V600E mutation is recommended in order to exclude sporadic colorectal cancer cases.
3.    If tumour with MMR deficiency and MSI high is detected, further mutation analysis from peripheral blood/normal tissue of the MMR genes is indicated.

Molecular studies are recommended for planning an appropriate surveillance strategy and genetic counseling for the family.

Asper Biotech offers MSI and IHC testing, mutation analysis of BRAF, MSH2, MLH1, MSH6, PMS2 genes, methylation analysis of MLH1, MSH2, MSH6, MSH3, MLH3, PMS2 genes.

MSI test is a fragment analysis based test. Sample materials are paraffin-embedded, formalin-fixed blocks of tumor- and normal tissue from colon. 2-4 ml  of blood with anticoagulant EDTA may also be used as normal tissue. The test is available with diagnostic package service (includes DNA extraction, genetic analysis, interpretation, hard copy of the results report).

Sample materials for IHC testing are paraffin-embedded, formalin-fixed blocks of tumor- and normal tissue from colon. The test is available with diagnostic package service (includes protein expression analysis, interpretation, hard copy of the results report).

BRAF mutation analysis detects V600E mutation by Allele-Specific PCR, sample material is paraffin-embedded, formalin-fixed block of tumor tissue from colon. The test is available with diagnostic package service (includes DNA extraction, genotyping, interpretation, hard copy of the results report).

MSH2, MLH1 genes mutation analysis includes sequencing and deletion/mutation detection by MLPA. PMS2 gene mutation analysis is performed by RNA-based method, using sequencing of cDNA synthesized by reverse transcriptase. MSH6 gene mutation analysis is performed by sequencing. Sample material for MLH1, MSH2 and MSH6 mutation analysis is 2-4 ml of blood with anticoagulant EDTA or DNA extracted from blood. Sample material for PMS2 mutation analysis is blood sample taken in the Tempus™ Blood RNA collection tubes.

MSH2, MLH1, PMS2, and MSH6 sequencing is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping,  interpretation, hard copy of the results report). Deletion/mutation detection by MLPA is available with diagnostic package service (includes DNA extraction, genetic analysis,  interpretation, hard copy of the results report).

Methylation analysis of MLH1, MSH2, MSH6, MSH3, MLH3, PMS2 genes is performed by MLPA. Sample material for sporadic colorectal cancer is paraffin-embedded, formalin-fixed block of tumor tissue from colon. Sample material for germline methylation is 2-4 ml of blood with anticoagulant EDTA or DNA extracted from blood. The methylation analysis is available with diagnostic package service (includes DNA extraction, genetic analysis,  interpretation, hard copy of the results report).