Risk management for people with inherited CDKN2A mutations

The following are risk management guidelines for people with CDKN2A mutations. We also recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type.  

Melanoma screening and prevention

• Perform monthly self-exams to look for skin changes. Have a friend or family member help with hard to see areas of the body.
• Watch moles closely for any signs of change in shape, size, or color.
• Twice yearly dermatologist exam should include mole mapping, or full body photography. They may also view moles with a hand-held device known as a dermatoscope. Any suspicious moles or other skin changes should be removed by a doctor so the tissue can be analyzed under a microscope.
• Due to the high risk of multiple melanomas, people with familial melanoma and/or CDKN2A gene mutations should practice sun safety and take steps to protect themselves when outdoors. This can include avoiding being outside during the peak sun exposure hours between 10:00 AM and 4:00 PM, seeking shade when available, using sunscreen frequently and liberally, wearing a hat with a brim at least 3 inches wide that extends all the way around the head, and wearing protective clothing that includes coverage of the arms and legs.
• Children in families that have familial melanoma and/or CDKN2A gene mutations should begin screening by age 10.
• In people that have had melanoma, thorough skin exams should be performed every 3 to 6 months by a dermatologist depending on several factors, including number of moles, time since diagnosis, skin type and melanoma type.

Pancreatic cancer screening and prevention

• Consider pancreatic cancer screening, beginning at age 40 (or 10 years younger than the earliest case of pancreatic cancer in the family), using one or both of the following:
  • contrast-enhanced MRI/magnetic resonance cholangiopancreatography (MRI/MRCP)
  • endoscopic ultrasound (EUS)
• Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
• NCCN recommends that the screening be performed in an experienced facility.