Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.
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.
- Dermatologists may take pictures of the skin and moles, known as 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.
If you are a person with a CDKN2A mutation, you can find peer support through the following resources:
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry a CDKN2A mutation and the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
- Read the stories from members of our community.
Other organizations that provide support for people diagnosed with melanoma include:
- AIM at Melanoma is a nonprofit organization that has online support and a list of in-person support groups by region.
Health plan coverage of screening and prevention varies, and deductibles, coinsurance and copays often apply. If you need preventive services and your insurance company denies your claim, your health care provider can help you write an appeal letter, or you can use one of our sample appeal letters. Visit our section on Insurance and Paying for Care: Screening and Prevention for more information.
The following screening and prevention studies are open to people with a CDKN2A mutation.
Pancreatic cancer
- NCT02000089: The Cancer of the Pancreas Screening-5 CAPS5)Study (CAPS5). The goal of this study is to evaluate pancreatic juice for early cancer markers.
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal ultrasound to screen for pancreatic cancer in high risk people. The study is open to people with a CDKN2A mutation or other mutation linked to increased cancer risk.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with a CDKN2A mutation or other mutation linked to increased cancer risk.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. MRI and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early stage pancreatic lesions.
Melanoma
- NCT04062032: Metabolomic and Inflammatory Effects of Oral Aspirin (ASA) in Subjects at Risk for Melanoma. This is an open label phase II pilot study assessing the metabolomic and inflammatory effects of oral aspirin (ASA) in human subjects at risk for melanoma.
- NCT04066725: Aspirin as an Ultraviolet (UV) Protectant in Human Subjects at Risk for Melanoma. This is a phase II trial assessing aspirin (ASA) as a UV protectant in patients at risk for melanoma.