© 2017 Elsevier Inc. All rights reserved. Personalized breast cancer care has been greatly advanced by developments in genetics and genomics. Precision medicine approaches have led to a reduction in breast cancer mortality, while also decreasing morbidity from treatment. The advent of next-generation sequencing now allows for testing of a larger panel of germline mutations predisposing to breast cancer. This capacity has led to detection of changes sometimes of uncertain significance, and without clear clinical guidelines. However, germline testing results are now translating into tools for guiding therapy as well as assessing genetic risk. Early-stage breast cancer management is primarily guided by conventional markers such as estrogen receptor, progesterone receptor, and HER-2 amplification status; however, it is also increasingly guided by molecular classification, and gene expression profiling that provides prognostic and predictive information. For advanced, metastatic disease, detection of gene mutations also promises to guide therapy more precisely, although this concept is still very much in development.
- Genomic and Precision Medicine: Primary Care: Third Edition
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International Standard Book Number 13 (ISBN-13)
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