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 TP53 mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with TP53 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 TP53 mutation

  • Complete physical and neurologic exams every 6-12 months
  • Annual whole body MRI
  • Annual brain MRI
  • 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 TP53 mutation carriers are advised to minimize radiation exposure due to the potential association with increased risk of a cancer diagnosis.


Additional 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 MRI with contrast beginning at age 20 ( or mammogram if MRI not available, but MRI 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 MRI and mammogram beginning at age 30
  • Consider 3D mammography
  • Risk-reducing mastectomy may also be considered


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.

find-support

If you are a person with an inherited TP53 mutation, you can find peer support through the following resources:

paying-for-service

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. Visit our section on Insurance and Paying for Care: Screening and Prevention for more information. 

clinical-trials

The following screening and prevention studies are open to people with a TP53 mutation. 

Whole body screening

Prostate cancer

  • NCT03805919: Men at High Genetic Risk for Prostate Cancer. This is a prostate cancer screening study using MRI in high risk men. This study is open to men with a TP53 or other mutation. The aim of the study is to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI) to see if cancers can be detected at an early stage which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body MRI 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 ultrasound to screen for pancreatic cancer in high risk people. The study is open to people with a TP53 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 TP53 mutation or other mutation linked to increased cancer risk.

Visit our Research Search and Enroll Tool to find additional cancer prevention and screening studies.