Germline Genetic Testing: What the Breast Surgeon Needs to Know



The American Society of Breast Surgeons (ASBrS) sought to provide educational guidelines for breast surgeons on how to incorporate genetic information and genomics into their practice.


A comprehensive nonsystematic review was performed of selected peer-reviewed literature. The Genetics Working Group of the ASBrS convened to develop guideline recommendations.


Clinical and educational guidelines were prepared to outline the essential knowledge for breast surgeons to perform germline genetic testing and to incorporate the findings into their practice, which have been approved by the ASBrS Board of Directors.


Thousands of women in the USA would potentially benefit from genetic testing for BRCA1, BRCA2, and other breast cancer genes that markedly increase their risk of developing breast cancer. As genetic testing is now becoming more widely available, women should be made aware of these tests and consider testing. Breast surgeons are well positioned to help facilitate this process. The areas where surgeons need to be knowledgeable include: (1) identification of patients for initial breast cancer-related genetic testing, (2) identification of patients who tested negative in the past but now need updated testing, (3) initial cancer genetic testing, (4) retesting of patients who need their genetic testing updated, (5) cancer genetic test interpretation, posttest counseling and management, (6) management of variants of uncertain significance, (7) cascade genetic testing, (8) interpretation of genetic tests other than clinical cancer panels and the counseling and management required, and (9) interpretation of somatic genetic tests and the counseling and management required.

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Dr. Hughes receives Honoraria from Focal Therapeutics (surgical implant for radiation planning with breast conservation), 23andMe, and is a founder of and has a financial interest in CRA Health (formerly Hughes RiskApps). Dr. Hughes’ interests were reviewed and are managed by Massachusetts General Hospital and Partners Health Care in accordance with their conflict of interest policies. Dr. Plichta has received grant funding from the Color Foundation (9/2017–10/2018).

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Correspondence to Kevin S. Hughes MD.

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Plichta, J.K., Sebastian, M.L., Smith, L.A. et al. Germline Genetic Testing: What the Breast Surgeon Needs to Know. Ann Surg Oncol 26, 2184–2190 (2019).

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