Hereditary Cancer and Genetic Testing

Cancer risk associated with inherited CDK2NA mutations

If you have tested positive for an inherited CDKN2A 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.

  • People who have a CDKN2A mutation have a 28 - 76 percent lifetime risk of developing melanoma. The lifetime risk for melanoma in someone without a mutation is about 2.5 percent. People with a CDKN2A mutation:
    • often develop melanomas at a young age (before the age of 50).
    • may develop two or more melanomas during their life.  
  • People with a CDKN2A mutation have up to a 17% percent lifetime risk of developing pancreatic cancer. 
  • Risks may be higher for people with close relatives who have been diagnosed with melanoma or pancreatic cancer. 
  • Some studies suggest that smoking may increase cancer risks in people with CDKN2A mutations.
clinical-trials
  • 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 CDKN2A mutations can enroll in PROMPT to help researchers learn more about cancer risks.
  • NCT03174574: Two Cancers, One Gene (TCOG). The TCOG study is looking at why some people in families with CDKN2A mutations develop melanoma or pancreatic cancer. The overall goal of this study is to understand the factors that increase pancreatic cancer and melanoma in high-risk families.

     

Last updated September 02, 2021