Risk Management & Treatment

Genes with inherited mutations linked to breast cancer

Multi-gene panel tests look for inherited mutations in many genes at the same time. These tests may include new or less common genes. Some panels may include additional genes other than those listed below. A genetics expert can make sure that the most appropriate test is ordered based on your personal situation and family medical history. They will also make sure that your test results are interpreted correctly.


Genes linked to breast cancer in women

Mutations in the following  have been linked to increased risk for breast cancer in women.

  •  (especially )
  •  (frequently linked to )
  •  (especially )
  •  (especially )
  •  (frequently linked to lobular breast cancer)
  • (only in people with neurofibromatosis)

 


Mutations in the following genes may also be linked to increased breast cancer risk. More research is needed to confirm a link to breast cancer and develop risk-management guidelines. 

  •  (especially )
  •  (only in people with a 657del5 mutation)


Genes linked to breast cancer in men

Mutations in the following genes have been linked to breast cancer risk in men.

find-support find-support

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

updated: 03/12/2022

guidelines guidelines

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:     

  • You have a blood relative who has tested positive for an inherited mutation 
  • You have any of the following:  
    • Breast cancer at age 50 or younger  
    • Male breast cancer at any age
    • Ovarian cancer at any age  
    • at any age 
    • Two separate breast cancer diagnoses
    • Eastern European Jewish ancestry and breast cancer at any age 
    • breast cancer 
    • Testing of your tumor shows a mutation in a gene that is associated with
    • breast cancer and high risk for recurrence
    • Lobular breast cancer and a family history of diffuse gastric cancer

OR 

  • You have one or more close family members who have had:  
    • Young-onset or rare cancers 
    • Breast cancer at age 50 or younger
    • Male breast cancer, ovarian cancer, pancreatic cancer, or   cancer at any age
    • Two separate cancer diagnoses 
    • cancer at age 55 or younger or prostate cancer 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes. 

If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert

 

updated: 11/22/2021

paying-for-service paying-for-service

Insurance coverage for genetic counseling and testing

Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.

People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here

testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and  testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here

Medicare and Medicaid coverage of genetic testing

Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.

Financial assistance or low cost genetic testing

JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .   

updated: 02/15/2022

clinical-trials clinical-trials

The following clinical trials are open to people diagnosed with breast cancer with an inherited mutation. 

Advanced of any type, including breast cancer

Breast cancer

Last updated January 25, 2022