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Related Concept Videos

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Related Experiment Video

Updated: Apr 9, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Comprehensive genomic profiling in solid tumours: Navigating promise, challenges, and pathways to clinical

Vittorio Studiale1, Ada Taravella1, Matteo Landi1

  • 1Unit of Medical Oncology 2, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

Cancer Treatment Reviews
|April 7, 2026
PubMed
Summary

Precision oncology utilizes genomic profiling to tailor cancer treatments, leading to tissue-agnostic drug approvals. Challenges like tumor heterogeneity remain for widespread clinical integration.

Keywords:
Comprehensive Genomic ProfilingMolecular Tumour BoardPrecision OncologyTargeted TherapyTumour-agnostic indications

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Area of Science:

  • Oncology
  • Genomics
  • Translational Medicine

Background:

  • High-throughput genomic profiling has revolutionized cancer biology understanding.
  • A shift from histology to molecular alterations guides targeted therapy and immunotherapy selection.
  • Precision oncology tailors treatments to actionable molecular targets, irrespective of tumor origin.

Purpose of the Study:

  • To review key trials supporting comprehensive genomic profiling in solid tumors.
  • To examine evidence for tissue-agnostic drug approvals in cancer care.
  • To highlight progress and remaining barriers in precision oncology implementation.

Main Methods:

  • Review of clinical trials demonstrating the utility of comprehensive genomic profiling.
  • Analysis of regulatory data supporting tissue-agnostic drug approvals.
  • Discussion of challenges impacting precision oncology integration.

Main Results:

  • Genomic profiling identifies molecular alterations predicting treatment response.
  • Nine anticancer agents received tissue-agnostic approvals by 2025.
  • Innovative clinical trial designs, including adaptive cohorts, facilitate drug assessment.

Conclusions:

  • Precision oncology, driven by genomic profiling, has achieved significant regulatory milestones.
  • Tumor heterogeneity and endpoint validation are key challenges for widespread adoption.
  • Further integration of precision oncology into routine care requires addressing existing barriers.