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
- 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:
- Women who have already had a past history of breast cancer, and
- 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
- Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. The American Society of Breast Surgeons. https://www.breastsurgeons.org/docs/statements/Consensus-Guideline-on-Genetic-Testing-for-Hereditary -Breast-Cancer.pdf. Accessed on 12 October, 2022.
- 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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733830/. Accessed on 12 October, 2022.
- Genetic Counseling and Testing for Breast Cancer Risk. American Cancer Society. https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/genetic-testing.html. Accessed on 12 October, 2022.
- 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). https://www.uptodate.com/contents/genetic-testing-for-hereditary-breast-ovarian-prostate-and-pancreatic-cancer-beyond-the-basics. Accessed on 12 October, 2022.