Guidelines for Genetic Testing for Hereditary Breast Cancer

Among the various types of cancers, one of the most prevalent ones is breast cancer. Although it can be cured completely if detected in the initial stages, there is still a lot of awareness that is required among the people. Breast cancer may occur due to various causes, but about 5-10% cases are hereditary. There is a rising need for getting genetic testing to detect the risk of breast cancer.

Patient eligibility for Genetic testing

Every healthcare provider should tell their patient if they are candidate for genetic counseling and testing, based upon an understanding of personal details and family history. Health care experts usually recommend BRCA1/2 or multigene panel testing, along with genetic counseling if the patient has a history of breast cancer that includes any of the following categories:
  • Diagnosis with breast cancer at 50 years or any younger age for triple-negative breast cancer.
  • Historyofhavingcancerinbothbreastsatthesametimeoratdifferenttimes, thefirstcasebeing
  • diagnosed at age 50 or less.
  • Male breast cancer.
  • Breastcancerdiagnosisatanyage, inadditiontohavingoneorfewbloodrelationswhohavehad
  • breastcanceratorbelow50yearsofageorevenovarian, metastaticprostate, pancreaticcancer, or
  • male breast cancer at any age.
  • Have a personal and/or family history of three or more specific types of cancer that includes breast,
  • pancreatic, ovarian, or colon cancer.
  • Any biological relative who has tested positive for a pathogenic variant in BRCA1 / 2 or any other genes linked with hereditary cancer.

Guidelines to Follow :

Patient education and counseling:
Genetic counselors, breast surgeons, and other medical professionals with in-depth knowledge of genetic testing should provide proper guidance to patients in terms of patient education and counseling.

Genetic testing availability:
Patients with a personal history of breast cancer should have access to genetic testing. These tests should include BRCA1/BRCA2 and PALB2, along with other genes as suitable to perform based on the family history and clinical scenario. There is a need for screening and subsequent testing of family members in case of patients with newly diagnosed breast cancer.

Re-testing in cases of previously tested patients:
Patients who have already consulted a breast surgeon in the past and undergone genetic testing, with no pathogenic variant identified, should be re-evaluated with updated testing. This is especially true for patients who had a negative germline BRCA1 and BRCA2 testing and belong to
a family with no pathogenic variants as such. Updated enetic testing would include testing for PALB2.

Testing for BRAC1/BRAC2 and Several Gene Mutations

The above guidelines generally include two groups of people:

  1. Women who have already had a past history of breast cancer, and
  2. Other groups of people- This includes:
  • Those with a known family history of a BRCA (or other) gene mutation
  • Those with a family history of breast cancer at an early age
  • People with more than one family member having breast cancer
  • People with a male member having breast cancer in the family

Easy Access to Genetic Testing

Genetic testing is now made available to patients easily-it costs less and is now being offered by many labs. This has made it easier for more patients to pursue genetic testing and increasing chances of identification of gene carriers. The only barrier remains the limited availability of genetic counselors for giving proper guidance and advice to the patients and their relatives. The role of breast surgeons is indispensable because they are the ones who can help identify suitable individuals for testing, educate them about the risks and benefits of genetic testing, provide access to genetic testing, and inform patients who test positive, about the risk management strategies.


  1. Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. The American Society of Breast Surgeons. -Breast-Cancer.pdf.  Accessed on 12 October, 2022.
  2. Eric R. Manahan, Henry M. Kuerer, Molly Sebastian, Kevin S. Hughes, Judy C. Boughey, David M. Euhus, Susan K. Boolbol, Walton A. Taylor. Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons. PubMed. 24 July, 2019.  Accessed on 12 October, 2022.
  3. Genetic Counseling and Testing for Breast Cancer Risk. American Cancer Society. Accessed on 12 October, 2022.
  4. Beth N. Peshkin, Claudine Issacs, Daniel F. Hayes, Benjamin A. Raby, Sadhna R. Vora. Patient educationGenetic testing for hereditary breast, ovarian, prostate, and pancreatic cancer (Beyond the basics). Accessed on 12 October, 2022.

Related Articles

All Related Articles

Book an Appointment

Book an Appointment to understand how GenepoweRx can help you in treating

Guidelines for Genetic Testing for Hereditary Breast Cancer