Introduction to Radiogenomics

  • Vassilios RaptopoulosEmail author
  • Leo Tsai


Gene expression profiling of human tissues produces a better understanding of normal cellular pathways and pathological conditions at a biomolecular level. In oncology, this has led to better understanding of tumor genesis and gene expression signatures, involving anywhere from a few dozens to hundreds of genes. This has in turn improved classification and subclassification of tumors and prediction of treatment response [1]. In this respect, gene expression profiling is an attempt to organize cancer into molecular subtypes [2]. In clinical practice, imaging is used to survey high-risk patients identified as such by their genotype as, for example, in patients with BRCA1 and BRCA2 mutations who are at high risk for developing breast cancer. Radiogenomics correlates imaging characteristics of disease (image-phenotype or “radio”-phenotype) with genome-related characteristics (genomics) such as gene expression patterns and gene mutations [1, 3].


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Harvard Medical SchoolBostonUSA
  2. 2.Department of RadiologyBeth Israel Deaconess Medical CenterBostonUSA

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