What is the most common associated condition with the CHEK2 mutation?

The most common associated condition with the CHEK2 mutation is breast cancer. CHEK2 is a tumor suppressor gene that plays a critical role in DNA damage repair and cell cycle regulation. Mutations in this gene can lead to an increased risk of developing certain types of cancers, particularly breast cancer. CHEK2 is known to be a moderate-risk breast cancer susceptibility gene, where individuals carrying the mutation may have a significantly elevated lifetime risk of developing breast cancer compared to the general population.

The link between CHEK2 mutations and breast cancer is well-supported by multiple studies, highlighting the importance of this gene in the context of hereditary breast and ovarian cancer syndrome. Genetic counseling and testing for CHEK2 are essential in assessing risk in individuals with a family history of breast cancer, enabling targeted surveillance and preventive strategies.