Germline Genetic Testing: What the Breast Surgeon Needs to Know.
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2019-07
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PURPOSE: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. METHODS:A comprehensive nonsystematic review was performed of selected peer-reviewed literature. The Genetics Working Group of the ASBrS convened to develop guideline recommendations. RESULTS: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. RECOMMENDATIONS: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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Plichta, Jennifer K, Molly L Sebastian, Linda A Smith, Carolyn S Menendez, Anita T Johnson, Sussan M Bays, David M Euhus, Edward J Clifford, et al. (2019). Germline Genetic Testing: What the Breast Surgeon Needs to Know. Annals of surgical oncology, 26(7). pp. 2184–2190. 10.1245/s10434-019-07341-8 Retrieved from https://hdl.handle.net/10161/19538.
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Jennifer K Plichta
Dr. Jennifer Plichta is an Associate Professor of Surgery & Population Health Sciences at Duke University. She serves as the Director of the Breast Risk Assessment Clinic in the Duke Cancer Institute, where she cares for patients with breast cancer, benign breast problems, and those with an increased risk of breast cancer. Her clinical interests include establishing routine breast cancer risk assessment for women and creating personalized management strategies for those found to be “high risk”.
Dr. Plichta’s research focuses of identifying and managing women with risk factors for breast cancer, including those with genetic mutations, such as BRCA, those with abnormal breast biopsies, and those with a family history of breast cancer. She is also studying metastatic breast cancer and how breast cancer staging can be used to improve patient care and education.
However, her dedication to breast cancer extends beyond her clinical and research interests. She also enjoys educating the community about breast cancer and helping to raise money for breast cancer research and education. She is the creator and primary coordinator of Duke’s free, annual breast education day for the community, “What’s best for breasts?”.
Carolyn Sue Menendez
Unless otherwise indicated, scholarly articles published by Duke faculty members are made available here with a CC-BY-NC (Creative Commons Attribution Non-Commercial) license, as enabled by the Duke Open Access Policy. If you wish to use the materials in ways not already permitted under CC-BY-NC, please consult the copyright owner. Other materials are made available here through the author’s grant of a non-exclusive license to make their work openly accessible.