Hereditary Cancer and Genetic Testing

Cancer risk associated with inherited CHEK2 mutations

If you have tested positive for an inherited CHEK2 mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you choose the best plan for managing your cancer risk.

Breast cancer risk

  • Women have a lifetime risk of 15-40 percent. 
  • Men may also be at increased risk for breast cancer, but the exact risk is unknown. 

Colorectal cancer risk

Both men and women who inherit a CHEK2 mutation are at increased risk of colorectal cancer. More research is needed to understand the lifetime colorectal cancer risk for people with CHEK2 mutations. 

Graph of lifetime risk for breast cancer in woman with <abbr
                class='glossary-tip tt-chek2'
                title='<p>CHEK2 is a gene found on chromosome 22.&nbsp;Mutations in&nbsp;CHEK2 increase the risk for&nbsp;breast cancer in women. CHEK2 mutations may also&nbsp;increase risk of breast cancer and&nbsp;prostate cancer in men, as well as&nbsp;colon cancer in both men and women.</p>
            >CHEK2</abbr> mutation

  • NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. People with CHEK2 mutations can enroll in PROMPT to help researchers learn more about cancer risks. 
Last updated September 02, 2021