What is CHEK2 gene mutation?
CHEK2 (Checkpoint Kinase 2) is a gene that plays a crucial role in maintaining the stability of the cell's genetic material and preventing the development of cancer. Mutations in the CHEK2 gene can impair its function, leading to an increased risk of developing certain cancers, including breast cancer.
What risks are associated with CHEK2 gene mutation?
Individuals with a CHEK2 gene mutation have an increased risk of developing breast cancer, particularly at a younger age. The risk of breast cancer associated with CHEK2 mutations is generally lower than that of BRCA1 and BRCA2 mutations but higher than that of the general population. In addition to breast cancer, CHEK2 mutations may also be associated with an increased risk of other cancers, such as prostate, colon, and thyroid cancer.
How do I determine if I have CHEK2 gene mutation?
If you have a family history of breast cancer or other risk factors suggestive of a CHEK2 gene mutation, we recommend scheduling a consultation with your healthcare provider. During your consultation, the following may be recommended:
- Genetic Counseling and Testing: Genetic counseling and testing for CHEK2 gene mutations to identify inherited genetic alterations associated with an increased risk of breast and other cancers.
- Personalized Screening: Personalized screening recommendations based on your genetic test results, family history, and individual risk factors. Screening may include breast imaging studies such as mammography, breast MRI, or breast ultrasound for early detection and surveillance.
- Risk-Reducing Strategies: Risk-reducing strategies such as increased surveillance, chemoprevention (medications to reduce cancer risk), or risk-reducing surgery (mastectomy or oophorectomy) may be considered for individuals with CHEK2 mutations, depending on their individual risk profile.