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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 inherited  mutations. We 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.

Breast cancer risk management

Breast cancer screening

  • Learning to be aware of changes in breasts beginning at age 18.
  • Clinical breast exam every 6-12 months beginning at age 25 (or 10 years earlier than the youngest age of onset in the family).
  • Annual with consideration of and breast with contrast beginning at age 30-35 (or 5-10 years earlier than the youngest breast cancer in the family).  

Risk-reducing mastectomy

  • Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
    • Research has shown that risk-reducing mastectomy can effectively lower the risk for breast cancer in high risk women by about 90%. Despite this, mastectomy has not been shown to improve overall survival for high risk women. Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains. 

Endometrial cancer risk management

  • Women should be educated on the possible symptoms of ovarian or uterine cancer. They should immediately report any unusual vaginal bleeding, pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, or increased urinary frequency or urgency to health care providers
  • Women should keep a calendar of their menstrual cycle and note any irregular bleeding or any postmenopausal bleeding.
  • Consider endometrial biopsy every 1 to 2 years beginning at age 35.
  • Consider transvaginal for postmenopausal women.
  • Consider hysterectomy after childbearing is complete.

Other cancers

The National Comprehensive Cancer Network (NCCN) guidelines recommend:

  • Annual comprehensive physical exam beginning at age 18 or 5 years earlier than the earliest cancer diagnosis in a family.
  • Annual thyroid beginning at age 7.
  • Colonoscopy beginning at age 35 unless symptomatic or if a close blood relative had colon cancer before age 40. Continue screening every 5 years.  
  • Consider renal beginning at age 40 then every 1-2 years.
  • Annual skin exams.
  • Consider psychomotor assessment in children at diagnosis and brain if there are symptoms.

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 March 17, 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 studies enrolling people with inherited mutations.  

  • NCT04770246: Using TAS-117 to Treat Advanced with Inherited Mutations. This study will look at how well the  TAS-117 works for treating people with an inherited  mutation and advanced or   (excluding primary brain tumors).
  • NCT02401347:  Beyond (TBB) Trial. The goal of the study is to evaluate the anti-cancer activity of (a type of treatment known as a ) in patients with advanced breast cancer with specific genetic mutations based on a blood, saliva, or tumor test. This study is open to people with inherited mutations , , , , , ,  and other genes. 
  • NCT02665195:  Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. 

updated: 03/17/2022