What is the main cancer risk associated with the CHEK2 gene?

The CHEK2 gene is primarily associated with an increased risk of breast cancer. Mutations in CHEK2 can lead to a dysfunction in the gene's ability to regulate cell cycle checkpoints, which in turn can allow for the development of cancerous cells, particularly in breast tissue. Research indicates that individuals with mutations in CHEK2 have a notably elevated risk of developing breast cancer compared to those without such mutations. Additionally, evidence suggests that CHEK2 mutations also confer some risk for other types of cancers, but breast cancer remains the most significant and well-documented association. This understanding is particularly important in genetic counseling, as it allows professionals to better assess risks for patients and guide them on appropriate screening and preventive measures related to breast cancer.