Risk management for people with inherited mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with mutations. These are listed below. 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. Note that when we use the term "men" and "women" we are referring to the sex you were assigned at birth.
Screening and prevention for adults with a mutation
- Complete physical and neurologic exams every 6-12 months
- Annual whole body
- Annual brain
- Endoscopy and colonoscopy every 2–5 years beginning by age 25, or 5 years earlier than the youngest age of diagnosis in the family
- Annual dermatologic examination beginning by age 18
People with mutation carriers are advised to minimize radiation exposure due to the potential association with increased risk of a cancer diagnosis.
Breast cancer screening and prevention for women
Screening
- Learn to be aware of changes in your breasts beginning at age 18.
- Breast exam by doctor every 6 months beginning at age 20 or at the age of earliest breast cancer diagnosis if there is a history of breast cancer before age 20 in family.
- Yearly breast with contrast beginning at age 20.
- Yearly beginning at age 30.
Risk reduction
- Have a discussion with your doctor about of the benefits and risks of double mastectomy.
- Risk-reducing mastectomy can lower the risk for breast cancer by about 90%. Despite this, mastectomy may not increase your overall survival.
- Even after double mastectomy, some breast tissue is left over, and therefore some breast cancer risk remains after surgery.
Pancreatic cancer screening
There are two tests that are used to look for pancreatic cancer.
- Contrast-enhanced magnetic resonance cholangiopancreatography (MRCP) 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.
- Endoscopic (EUS) 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 for people with a mutation is recommended for people who also have a family history of pancreatic cancer.
- For mutation carriers with a first- or second- degree relative with pancreatic cancer consider screening beginning at age 50 or 10 years younger than the age of diagnosis of the relative.
- Before undergoing screening, you should have a conversation with your doctor about the benefits, risks, costs and limitations of screening.
- Screening includes annual MRCP and/or EUS.
- Screening should be done at a facility with experience in screening high-risk patients for pancreatic cancer.
Screening and prevention for children
Currently, the NCCN recommends that pediatricians be made aware of the mutation in the family and the increased risk of childhood cancers. However, other experts recommend screening for adrenocortical (adrenal gland) and blood cancers as well as annual brain MRIs from birth.
Related Resources
The following resources focus on mutations.
- FORCE resources:
- Information: gene mutations overview
- Information: cancer risk
- Information: risk management
- Genetics Home Reference: information about the effects of an inherited mutation
- The National Organization for Rare Disorders (NORD): section on Li-Fraumeni syndrome
- Association
updated: 03/16/2022
Paying For Care
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. If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.
Visit our section on Insurance and Paying for Care: Screening and Prevention for more information.
updated: 11/15/2022
Open Clinical Trials
The following screening and prevention studies are open to people with a mutation.
Whole body screening
- NCT02950987: Screening With Whole Body For Detection Of Primary Tumors In Children And Adults With (LFS) And Other Cancer Predisposition Syndromes.
- NCT01443468: Clinical and Genetic Studies of . Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.
cancer
- NCT03805919: Men at High Genetic Risk for Cancer. This is a cancer screening study using in high risk men. This study is open to men with a or other mutation. The aim of the study is to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging () to see if cancers can be detected at an early which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body scanning because this scan allows doctors to look at the entire body in one examination. By using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS.
Pancreatic cancer
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal to screen for pancreatic cancer in high risk people. The study is open to people with a mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
- 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 mutation or other mutation linked to increased cancer risk.
Visit our Research Search and Enroll Tool to find additional cancer prevention and screening studies.
updated: 05/29/2023