Highlights
- •Summarization of methods of identification of ctDNA.
- •Diagnostic characterization of ctDNA in breast cancer.
- •Utility of ctDNA in monitoring of disease progression and response to therapy in breast cancer.
Abstract
Despite all the advances in diagnosis and treatment of breast cancer, a large number
of patients suffer from late diagnosis or recurrence of their disease. Current available
imaging modalities do not reveal micrometastasis and tumor biopsy is an invasive method
to detect early stage or recurrent cancer, signifying the need for an inexpensive,
non-invasive diagnostic modality. Cell-free tumor DNA (ctDNA) has been tried for early
detection and targeted therapy of breast cancer, but its diagnostic and prognostic
utility is still under investigation. This review summarizes the existing evidence
on the use of ctDNA specifically in breast cancer, including detection methods, diagnostic
accuracy, role in genetics and epigenetics evaluation of the tumor, and comparison
with other biomarkers. Current evidence suggests that increasing levels of ctDNA in
breast cancer can be of significant diagnostic value for early detection of breast
cancer although the sensitivity and specificity of the methods is still suboptimal.
Additionally, ctDNA allows for characterizing the tumor in a non-invasive way and
monitor the response to therapy, although discordance of ctDNA results with direct
biopsy (i.e. due to tumor heterogeneity) is still considered a notable limitation.
Keywords
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Article info
Publication history
Published online: February 23, 2018
Accepted:
February 16,
2018
Received in revised form:
January 15,
2018
Received:
July 2,
2017
Identification
Copyright
© 2018 Elsevier Inc. All rights reserved.
