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.
- 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 , 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 (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.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following are studies looking at risk management for pancreatic cancer:
- 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. Magnetic Resonance Imaging and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for pancreatic cancer or precursor lesions.
- NCT02478892: Preliminary Evaluation of Screening for Pancreatic Cancer in Patients With Inherited Genetic Risk. The study is a , observational study evaluating the utility of endoscopic or for the identification of preneoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1/2, or mutations.
- NCT03568630: Blood Markers of Early Pancreas Cancer. Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher-than-average risk, expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.
- NCT02206360: Pancreatic Cancer Early Detection Program (PCEDP). This is a study looking at esophageal as a screening for pancreatic cancer in high risk individuals.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The goal is to screen for pancreatic cancer in individuals with a strong family history or genetic risk using Magnetic Resonance Imaging and Magnetic cholangiopancreatography (MRI/MRCP).
A number of other clinical trials for pancreatic cancer screening and prevention may be found here.
- 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.