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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. Consider enrolling in a research study looking at other ways to screen for or prevent cancer. 

Risk management for children

An inherited mutation can increase the risk for cancer beginning during childhood. Risk management for some cancers begins at a young age. 

  • Girls should have an annual exam by a doctor to look for evidence of early-onset puberty beginning at age 8.
  • Boys should have an annual exam by a doctor to look for cancer of the testicles or evidence of feminizing changes beginning at age10.
  • Boys and girls should have a colonoscopy, upper endoscopy and small bowel exam using CT, or video capsule endoscopy starting at age 8-10 with followup every 2-3 years depending on if abnormalities are found.


Risk management for adults


Breast cancer in women

  • Learning to be aware of changes in breasts beginning at age 18. 
  • Clinical breast exam every 6 months starting at age 30.
  • Yearly breast with contrast and yearly  beginning at age 30.
  • Discuss risk-reducing mastectomy. 


Ovarian, cervical and endometrial cancer

  • Yearly pelvic exam and Pap smear beginning at age 18-20.


Testicular cancer 

  • Yearly testicular exam and observation for feminizing changes (e.g., breast enlargement) beginning at age 10 and continuing through adulthood.


Gastrointestinal cancers

  • Colonoscopy every 2-3 years beginning in late teens.
  • Upper endoscopy every 2-3 years beginning in late teens.
  • Small bowel screening with CT or .  Baseline at age 8-10 years.After baseline exam, follow-up small bowel screening every 2-3 years, beginning at age 18.


Pancreatic cancer

  • Consider pancreatic cancer screening every 1-2 years, beginning at age 30-35 (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. 


Other cancer 

  • Provide information about lung cancer and quitting smoking.

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a  mutation. For this reason, experts recommend managing other cancer risks based on family history. Cancer screening and prevention research studies may be available for people with  mutations. 

Last updated September 22, 2022

Get Support
Get Support

FORCE offers many peer support programs for people with inherited mutations. 

updated: 08/06/2022

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 are risk-management studies enrolling people with inherited mutations. Check study listings or contact the study team to see if you are eligible. 

Multiple cancers

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 , , , , , HOXB13, , , ,  and other inherited mutations.
  • NCT05129605: Cancer Genetic Risk Evaluation and Screening Study (PROGRESS).  This study will look at how well  MRI works as a screening tool for men at high risk for cancer. This study is open to men with inherited mutations in , , , , , , HOXB13, , , , , , , , , and other genes. 

Ovarian cancer

Pancreatic cancer

Additional risk-management clinical trials for people with inherited mutations may be found here.

updated: 09/11/2022