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Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer

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Departments of Cancer Biology and Genetics and Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
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Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
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Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
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Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
*
Authors to whom correspondence should be addressed.
J. Pers. Med. 2019, 9(1), 15; https://doi.org/10.3390/jpm9010015
Received: 18 January 2019 / Revised: 18 February 2019 / Accepted: 22 February 2019 / Published: 1 March 2019
(This article belongs to the Special Issue Risk-stratified Cancer Screening)
Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2, for the purpose of identifying high-risk individuals who would benefit from earlier screening and more sensitive methods such as magnetic resonance imaging. We also consider risk-based screening in the general population, including whether every woman should be genetically tested for high-risk genes and the potential use of polygenic risk scores. In addition to enabling early detection, the results of genetic screens of breast cancer susceptibility genes can be utilized to guide decision-making about when to elect prophylactic surgeries that reduce cancer risk and the choice of therapeutic options. Variants of uncertain significance, especially missense variants, are being identified during panel testing for hereditary breast and ovarian cancer. A finding of a variant of uncertain significance does not provide a basis for increased cancer surveillance or prophylactic procedures. Given that variant classification is often challenging, we also consider the role of multifactorial statistical analyses by large consortia and functional tests for this purpose. View Full-Text
Keywords: Risk stratification; risk models; polygenic risk score; hereditary breast and ovarian cancer; breast cancer screening; genetic risk; genetic testing; BRCA1; BRCA2 Risk stratification; risk models; polygenic risk score; hereditary breast and ovarian cancer; breast cancer screening; genetic risk; genetic testing; BRCA1; BRCA2
MDPI and ACS Style

Willoughby, A.; Andreassen, P.R.; Toland, A.E. Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer. J. Pers. Med. 2019, 9, 15.

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