CDKN2A: Options for Managing Cancer Risk
Guidelines for People with Inherited CDKN2A Mutations
The following are risk management guidelines developed by experts for people with CDKN2A mutations.
We recommend that you speak with a genetics expertwho 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 for different cancers in our section on Screening and Risk Reduction by Cancer Type.
Melanoma screening and prevention guidelines
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Beginning Age |
Recommendation |
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10 |
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Source: Mutations: Cancer Risk and Management Recommendations 2020 (2020). UT Southwestern Harold C: Simmons Comprehensive Cancer Center. |
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Pancreatic cancer screening options
There are two tests that are used to look for pancreatic cancer in high-risk people.
- MRCP (Contrast-enhanced magnetic resonance cholangiopancreatography) is a special type of imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
- EUS (Endoscopic ) involves passing a tiny scope with an attached probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Pancreatic cancer screening guidelines
Pancreatic cancer screening is recommended for people with a mutation that affects the p16INK4A protein.
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Beginning Age |
Recommendation |
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40 |
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Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, , v.1 2027. |
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Nerve sheath, sarcoma, brain and other cancer screening
For people with a mutation that affects the p14ARF protein, the following screenings are recommended based on family history of cancer.
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Beginning Age |
Recommendation |
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Personalized based on family history |
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Source: Goldstein AM et al. CDKN2A‑Related Cutaneous Malignant Melanoma. GeneReviews®, NCBI Bookshelf. Updated Jan 11, 2024. |
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Other cancers
mutations are not known to increase the risk for some common cancers. For these cancers, people with a mutation should follow the same screening guidelines recommended for people at average risk.
Screening recommendations are based on factors such as age, family history, and other known risk factors, not on the mutation itself.
National screening guidelines exist for the following cancers:
People with a mutation should talk with their healthcare provider about which routine cancer screenings are right for them.
Find Compassionate Support
Making treatment decisions may feel overwhelming or isolating. You don't have to face this alone. Find support from people who have been there and understand.
Get Help Locating Resources
Connect with a trained volunteer who can help you navigate the decisions you face about hereditary cancer or cancer risk.
Learn More About Hereditary Cancers
Visit our section with in-depth information on screening, prevention or treatment of different types of cancer.
Find Pancreatic Screening Experts
The PRECEDE study has a list of sites with expertise in pancreatic cancer screening.
NCCN Pancreatic Cancer Patient Guidelines
Expert guidelines for people with pancreatic cancer.
Pancreatic Cancer Action Network
Dedicated to fighting pancreatic cancer in a comprehensive way.
Participate in Hereditary Cancer Prevention Research
Below are some of our featured research studies looking at new ways to screen for, prevent or intercept cancer in people with CDKN2A mutations. To search for additional studies, visit our Search and Enroll Tool.
Vaccine for People at High Risk for Pancreatic Cancer
Clinicaltrials.gov identifier: NCT05013216
Pancreatic Cancer Screening Study (CAPS5)
Clinicaltrials.gov identifier: NCT02000089
Pancreatic Cancer Early Detection for People at High Risk
Clinicaltrials.gov identifier: NCT04970056
Blood Markers of Early Pancreas Cancer
Clinicaltrials.gov identifier: NCT03568630