Hereditary Cancer and Genetic Testing

Guidelines for genetic testing in people diagnosed with breast cancer

Up to 10% of people diagnosed with breast cancer have an inherited mutation that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an inherited mutation linked to cancer.


Genetic testing for women diagnosed with breast cancer

All women diagnosed with breast cancer at age 45 or younger would benefit from genetic counseling and testing. 

Women diagnosed with breast cancer between ages 46-50 would benefit from genetic counseling and testing if they have any of the following: 

  • a small family.
  • unknown family history.
  • cancer in both breasts or a second breast cancer in the same breast.
  • 1 or more first-, second- or third-degree relative who have been diagnosed with any of the following:
    • ovarian cancer.
    • breast cancer. 
    • male breast cancer.
    • pancreatic cancer.
    • prostate cancer.

Women are likely to benefit from genetic counseling and testing if they were diagnosed with breast cancer at any age and have any of the following:

  • triple-negative breast cancer.
  • a relative who has tested positive for an inherited mutation associated with cancer.
  • Eastern European (Ashkenazi) Jewish ancestry. 
  • 1 or more first-, second- or third-degree relative who have been diagnosed with any of the following:
    • ovarian cancer.
    • breast cancer before age 50.
    • male breast cancer.
    • pancreatic cancer.
    • metastatic prostate cancer.
  • 2 or more first-, second- or third-degree relatives with breast cancer or prostate cancer at any age
  • 3 or more separate diagnoses of breast cancer in patient and/or close relatives combined.
  • lobular breast cancer with a personal or family history of diffuse gastric cancer.
  • metastatic breast cancer to determine eligibility for treatment with the targeted therapies Lynparza or Talzenna.
  • early stage breast cancer at high risk for recurrence to determine eligibility for maintenance therapy with the targeted therapy Lynparza.

Women with the following are unlikely to have an inherited gene mutation:

  • Diagnosed with breast cancer after 65 who have:
    • no prior history of breast, ovarian or pancreatic cancer.
    • no first-,second-, or third-degree relative who was diagnosed with breast, ovarian, pancreatic or prostate cancer.  
    • no Eastern European Jewish ancestry.


Genetic testing for men diagnosed with breast cancer

All men with breast cancer meet national guidelines for genetic counseling and/or testing, regardless of age at diagnosis.


Other people who may benefit from genetic counseling and testing

You may benefit from additional genetic counseling and expanded genetic testing if you had genetic testing in the past, you tested negative, and the following applies to you:

  • your situation matches any of the above, and
    • you had a test that only looked for one or a few genes, or 
    • you had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.

Breast cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them. 


Genetic testing for relatives of people who have been diagnosed with breast cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who meets the criteria listed above. 


See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information. 

finding-experts

Healthcare providers who are specially trained in genetics can help people diagnosed with cancer learn if it was caused by an inherited mutation. There are several ways to find a genetics expert:

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704, can connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and hereditary cancer and help you find a genetic counselor near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 
find-support

If you have been diagnosed with breast cancer and you are considering genetic testing, you can find peer support through the following resources:

 

paying-for-service

The majority of public and private health insurance plans cover genetic counseling, and if appropriate, genetic testing for people who have specific personal and/or family histories of cancer. Copays, coinsurance and deductibles may apply. Visit our section on Insurance and Paying for Genetic Counseling and Testing for more information.  

Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation: 

Last updated August 31, 2021