- Gene function: Tumor suppressor involved in DNA damage response and repair (checkpoint control).
- Mutations: Pathogenic variants increase breast cancer risk (2–3x lifetime risk), especially ER+ tumors.
- Clinical relevance:
- Moderate-penetrance gene (less risk than BRCA1/2, but still clinically significant).
- Mutation carriers may need enhanced breast screening (annual MRI + mammogram).
- No direct targeted therapy, but may influence eligibility for PARP inhibitor studies (since it’s part of DNA repair pathway).
Synonyms
CHEK2