CHEK2 control samples

CHEK2 gene mutations belong to Class II mutations in genes that are involved in the processes of DNA replication, transcription, recombination and reparation. Those genes encode various enzymes (e.g. polymerases, helicase, topoisomerase, etc.) and cell cycle regulating proteins. Defects in these genes can result in chromosomal instability and therefore lead to cancer.

The CHEK2 gene (cell-cycle checkpoint kinases 2) encodes a protein called cell cycle checkpoint regulator, which is involved in DNA repair processes and in cell division regulating processes. The product of this gene is an enzyme called protein kinase enzyme and is synthesized in response to damage to DNA molecules. The mechanism of action is to block the cell cycle in the G1 phase or launch apoptosis process, while suppressing malignant transformation of cells. CHEK2 gene mutations can cause expression of a defective truncated protein and they are associated with emergence of different inherited forms of malignancies. There are three mutations in the CHEK2 gene that are particularly important: 1100delC, IVS2 + 1G> A and 470T> C Ile157Thr.

CHEK2 control samples Kit is intended for detection and allelic discrimination of human CHEK2 gene polymorphisms (mutations 1100delC, IVS2+1G>A, 470T>C (Ile157Thr)) associated with inherited risk of cancer development.

Sample: peripheral blood

DNA extraction: PREP-GS-GENETICS and PREP-RAPID-GENETICS kits

Certification: RUO