Germline Genetic Testing: What the Breast Surgeon Needs to Know.
Abstract
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.
Type
Journal articleSubject
Science & TechnologyLife Sciences & Biomedicine
Oncology
Surgery
CANCER RISK
HEREDITARY BREAST
AMERICAN SOCIETY
UNITED-STATES
MUTATIONS
WOMEN
TIME
DNA
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https://hdl.handle.net/10161/19538Published Version (Please cite this version)
10.1245/s10434-019-07341-8Publication Info
Plichta, Jennifer K; Sebastian, Molly L; Smith, Linda A; Menendez, Carolyn S; Johnson,
Anita T; Bays, Sussan M; ... Hughes, Kevin S (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.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Carolyn Sue Menendez
Assistant Professor of Surgery
Jennifer K Plichta
Associate Professor of Surgery
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 &ldquo
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