CHEK2: Cancer Genetic Test

The CHEK2 gene test allows the detection of gene mutations relevant to the risk of cancer development. Thanks to the results, it is possible to determine whether a person is at risk of developing cancer before it begins to develop in the body.

Genetic testing for cancer

Genetic tests are more and more popular. They are one of the preventive measures. However, in their case, it is possible to know if a person has inherited a gene mutation that increases the risk of developing cancer. Both positive and negative results provide a lot of important information about the genetic profile. When a CHEK2 gene mutation is detected, the test person gains the opportunity to make informed decisions about cancer prevention. A positive result is not a judgment, but only an indication of what should be given special attention. Implementation of preventive measures as early as possible allows for a significant reduction in the risk of cancer development.

What is the function of the CHEK2 gene?

The CHEK2 gene is called a suppressor gene (anti-oncogene), i.e. a gene that prevents the development of cancer. It is possible due to the protein product which, by interacting with other proteins (including TP53), controls the cell cycle. The CHEK2 mutation disrupts the activity of this protein, which leads to disturbance of cell cycle control and, in the long term, causes the development of cancer. A 2000 study by a team of scientists from the Laboratory of Molecular Hematology in Bethesda, United States, showed that the CHEK2 gene is responsible for regulating the function of the BRCA1 gene. The presence of CHEK2 mutation affects also other genes, which are responsible for the reconstruction of DNA.

What is the CHEK2 mutation?

The CHEK2 mutation is inherited autosomal dominant, which means that only one defective copy of the gene, inherited from one parent, increases the risk of developing cancer. According to research, having the CHEK2 mutation is associated with even a several-fold increase in risk and usually causes cancer to develop before the age of 45.

What does the CHEK2 gene mutation involve?

The CHEK2 mutation is associated with an increased risk of developing certain cancers. Possible mutations in the CHEK2 gene include:

• c.1100delC – indicates the occurrence of type 2 Li-Fraumeni syndrome and is associated with a predisposition to breast cancer, prostate cancer and colon cancer
• p.I157T – indicates the occurrence of Li-Fraumeni syndrome type 2 and is associated with a predisposition to breast cancer, prostate cancer and colon cancer
• p.Arg145Trp – means Li-Fraumeni syndrome type 2
• c.1422delT – indicates the occurrence of type 2 Li-Fraumeni syndrome
• 5.4kbp deletion – is associated with a predisposition to prostate cancer
• c. IVS2DS, G-A, +1 – is associated with a predisposition to the occurrence of many neoplasms

Who should take the CHEK2 test?

The CHEK2 test can be performed by anyone, regardless of age or health condition. Since the mutation of this gene is hereditary, the test is recommended in the case of people with relatives that have been diagnosed with cancer. Due to the connection of the CHEK2 gene with the BRCA genes, the test is particularly recommended to women. However, the CHEK2 test is just as important and beneficial for the rest of the population. Moreover, genetic testing for cancer is worth doing regardless of family medical history.

CHEK2 genetic testing – cost

Depending on the place where the test is performed, the price may vary up to $600. Very often, you can find special packages that combine the CHEK2 gene mutation test with the BRCA gene test. Accordingly, their price is higher. However, it is worth taking a test that takes into account the broadest possible spectrum of mutations. Detection of CHEK2 mutation only provides information on only one gene.

For more information, check Cancer prevention. What tests to perform?