CHEK2 mutations

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 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.

Indications for genetic test:

• Family history (breast cancer, prostate cancer, or colorectal cancer in first-degree relatives);

• One or more relatives with the same type of tumor;

• Atypical proliferative breast diseases;

• Multiple primary tumors in the same organ;

• Multiple primary tumors in different organs;

• Multiple primary tumors in paired organs;

• Multifocality inside one organ;

• Tumor manifestations at an early age;

• Two or more relatives with rare forms of cancer;

• Two or more relatives with tumor related to family cancer;

• Three or more relatives in two generations with tumors of one localization;

•  Negative test result for BRCA1 and BRCA2 gene mutations

CHEK2 SNP Genotyping 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