Abstract

Within the field of oncology, “omics” strategies—genomics, transcriptomics, proteomics, metabolomics—have many potential applications and may significantly improve our understanding of the underlying processes of cancer development and progression. Omics strategies aim to develop meaningful imaging biomarkers for breast cancer (BC) by rapid assessment of large datasets with different biological information. In BC the paradigm of omics technologies has always favored the integration of multiple layers of omics data to achieve a complete portrait of BC. Advances in medical imaging technologies, image analysis, and the development of high-throughput methods that can extract and correlate multiple imaging parameters with “omics” data have ushered in a new direction in medical research. Radiogenomics is a novel omics strategy that aims to correlate imaging characteristics (i. e., the imaging phenotype) with underlying gene expression patterns, gene mutations, and other genome-related characteristics. Radiogenomics not only represents the evolution in the radiology–pathology correlation from the anatomical–histological level to the molecular level, but it is also a pivotal step in the omics paradigm in BC in order to fully characterize BC. Armed with modern analytical software tools, radiogenomics leads to new discoveries of quantitative and qualitative imaging biomarkers that offer hitherto unprecedented insights into the complex tumor biology and facilitate a deeper understanding of cancer development and progression. The field of radiogenomics in breast cancer is rapidly evolving, and results from previous studies are encouraging. It can be expected that radiogenomics will play an important role in the future and has the potential to revolutionize the diagnosis, treatment, and prognosis of BC patients. This article aims to give an overview of breast radiogenomics, its current role, future applications, and challenges.

Highlights

  • Four intrinsic molecular subtypes of breast cancer (BC) have been revealed from extensive profiling at the DNA, microRNA, and protein levels by The Cancer Genome Atlas (TCGA) Network [5]: luminal A, luminal B, HER2(human epidermal growth factor receptor 2)-enriched, and triple negative (TN)

  • TN and HER2+ subtypes are associated with an unfavorable prognosis, but with the introduction of chemotherapy drugs such as trastuzumab and pertuzumab, the natural course of disease of TN and HER2+ has significantly improved [19]

  • TN cancers are associated with a higher risk of regional relapse and the prognosis is dismal once the cancer spreads to regional lymph nodes, regardless of the number of nodes involved

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Summary

Imaging and the completion of the omics paradigm in breast cancer

Within the field of oncology, “omics” strategies—genomics, transcriptomics, proteomics, metabolomics—have many potential applications and may greatly improve our understanding of the underlying processes of cancer development and progression. They are naturally suited and highly promising for biomarker discovery as they allow for the rapid and simultaneous analysis of samples with rich biological information

Omics data in oncology
Precision Medicine
Feature extraction approaches
Current applications
Radiogenomic approaches
Individual genomic signatures
Molecular breast cancer subtypes
Recurrence scores
Challenges and future perspectives
Low ROR
Findings
Compliance with ethical guidelines
Full Text
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