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Fast Facts: Comprehensive Genomic Profiling

Making precision medicine possible

Authors: B.L. Rapoport, G. Troncone, F. Schmitt, S. Nayler Publisher: S. Karger AG Publication date: 2020 Publication language: Angielski Number of pages: 109 Publication formats: EAN: 9783318068191 ISBN: 9783318068191 Category: Medical genetics Publisher's index: 9783318068191 Bibliographic note: -


Cancer is a multifaceted disease in which genetic changes induce uncontrolled tumor growth. Genomic characterization of cancer is now leading to better diagnostic, prognostic and predictive biomarkers, and effective individualized management. 'Fast Facts: Comprehensive Genomic Profiling' provides a crash course in the science, methods and application of genomic profiling. Assuming only the most basic knowledge – or memory – of cell biology, the authors provide an overview of DNA and RNA biology and next-generation sequencing. This sets in context the descriptions of prognostic and predictive biomarkers for different cancer types and genomic-based treatments. Finally, but importantly, some of the practicalities of gaining and interpreting genomic information are described. Whether you need a primer or a refresher, this short colorful book demystifies this complex subject. Contents: • Genetic mutations and biomarkers • Understanding next-generation sequencing • Elements of comprehensive genomic profiles • Role in precision oncology • Predictive and prognostic biomarkers • Overcoming barriers to genotype-directed therapy


  • Fast Facts: Comprehensive Genomic Profiling 2
  • Title page 3
  • Table of contents 5
  • Glossary and list of abbreviations 7
  • CHAPTER 1: Genetic mutations and biomarkers 15
  • CHAPTER 2: Understanding next-generation sequencing 31
  • CHAPTER 3: Elements of comprehensive genomic profiles 42
  • CHAPTER 4: Role in precision oncology 55
  • CHAPTER 5: Predictive and prognostic biomarkers 65
  • CHAPTER 6: Overcoming barriers to genotype-directed therapy 95
  • Useful resources 103
  • Appendix: about the authors 105
  • Index 107