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Hereditary Cancer and Genetic Testing

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.

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

  • Breast self-awareness beginning at age 18
  • Clinical breast examination by a health care provider twice a year starting by age 20
  • Annual breast  with contrast beginning at age 20 ( or  if not available, but is preferred) or at the age of earliest breast cancer diagnosis if there is a history of breast cancer before age 20 in family
  • Annual breast  and  beginning at age 30
  • Consider 3D 
  • Risk-reducing mastectomy may also be considered

Pancreatic cancer screening

  • For people 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. 
  • For people who choose pancreatic cancer screening, NCCN recommends that the screening be performed in a facility with experience in screening high-risk patients for pancreatic cancer. Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
  • Consider annual screening with contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ).

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.

Last updated January 23, 2022

Paying For Care
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
Open Clinical Trials

The following screening and prevention studies are open to people with a  mutation. 


  • NCT04541654: Li-Fraumeni & (LiFT UP) (LiFT UP). The purpose of this study is to learn more about variants in the gene both associated with (LFS), a risk condition, and variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).

Whole body screening


  • 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: 01/23/2022