CDKN2A Gene Mutations: Cancer Risks
Cancer Risks Associated with Inherited Mutations
mutations do not all affect cancer risk in the same way. The risks can differ depending on whether the mutation affects the p16INK4A protein, the p14ARF protein, or both.
The most common mutations affect p16INK4A. These mutations are linked to increased risk for:
- melanoma
- pancreatic cancer
Mutations that affect p14ARF have been linked to an increased risk for:
- melanoma
- tumors of the nervous system (such as certain brain or nerve sheath tumors)
- sarcomas
- there may be an increased risk for other types of cancers.
If you have tested positive for an inherited mutation, we recommend that you speak with a genetics expert. They will look at your personal and family history of cancer and help you understand your cancer risk. They will work with you to choose a plan for managing your cancer risk that's right for you.
Cancer risk table
|
Cancer Type |
Lifetime Risk with a Mutation |
Lifetime Risk for General Population |
Notes |
|
Melanoma |
28 - 76% |
2.5% |
People with mutations:
The risk depends on family history, where they live, lifestyle and other genetic factors. |
|
Pancreatic cancer |
15% or higher |
1.7% |
Associated with mutations that affect the p16INK4A protein. Research suggests that smoking may increase this risk. |
|
Other cancers:
|
Exact risks unknown |
Associated with mutations that affect the p14ARF protein. |
|
|
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, , vs.3 2026. |
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More Resources
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 Prevention Research
Below are some of our featured research studies looking at new ways to screen for, prevent or intercept cancer in people with 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 Early Detection for People at High Risk
Clinicaltrials.gov identifier: NCT04970056
