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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

CHEK2

Genetic testing can find mutations in a gene called CHEK2 (Checkpoint Kinase 2), which is linked to increased risk for cancer.

Women with a mutation in CHEK2 are at increased risk for breast cancer, up to about 37% lifetime risk. Men with a CHEK2 mutation may be at increased risk for breast cancer and prostate cancer. Both men and women with a CHEK2 mutation may be at increased risk for colon or other cancers. Research into the types cancers and exact cancer risk associated with inherited mutations in CHEK2 is ongoing. The PROMPT Study is a research registry enrolling people who have had panel testing in order to learn more about cancer risks associated with gene mutations like CHEK2

National guidelines recommend that women with CHEK2 mutations undergo increased screening for breast cancer beginning at age 40. Other options, including participating in detection and prevention research studies, may be available to manage risk. If you have tested positive for a CHEK2 mutation, we recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you to determine the best risk-management plan.

 

Updated 12/26/2017

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