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Comprehensive genomic profiling for oncological advancements by precision medicine

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Abstract

Considerable advancements in next generation sequencing (NGS) techniques have sparked the use of comprehensive genomic profiling (CGP) as a guiding tool for precision-centered oncological treatments. The past two decades have seen the completion of the human genome project, and the consequential invention of NGS. High-throughput sequencing technologies support the discovery and commonplace use of individualized cancer treatments, specifically immune-centered checkpoint inhibitor therapies, and oncogene and tumor suppressor gene targeted therapies. Nevertheless, CGP is not commonly used in all clinical settings. This review investigates the clinically relevant applications of CGP. Studies published between the years 2000–2023 have shown substantial evidence of the benefits of integrating CGP into routine care practice, while also making important comparisons to current-standard oncological treatment strategies. Findings of a comprehensive genomic profile includes predictive, prognostic, and diagnostic biomarkers, together with somatic mutation identification which can indicate the efficacy of immunotherapies and molecularly guided therapies. This review highlights the importance of CGP in identifying driver mutations in tumors that subsequently can be effectively targeted with molecular therapeutics and lead to drug discovery, allowing for increased precision in treating tumors selectively based on their specific genetic mutations, thereby improving patient outcomes.

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Acknowledgements

Maya Pankiw is supported by a Summer Studentship Award from the Department of Medicine, Mount Sinai Hospital, Toronto, Canada. The authors wish to thank Andrea Djolovic, Mount Sinai Services, for contributions to mentorship of Maya Pankiw.

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The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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Authors and Affiliations

  1. Department of Medicine, Mount Sinai Hospital, Toronto, ON, Canada

    Maya Pankiw & Christine Brezden-Masley

  2. Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, ON, Canada

    Maya Pankiw & George S. Charames

  3. Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada

    Christine Brezden-Masley & George S. Charames

  4. Department of Medicine, University of Toronto, Toronto, ON, Canada

    Christine Brezden-Masley

  5. Department of Lab Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

    George S. Charames

  6. Mount Sinai Services, Toronto, ON, Canada

    George S. Charames

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  1. Maya Pankiw
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  2. Christine Brezden-Masley
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  3. George S. Charames
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Correspondence to George S. Charames.

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Pankiw, M., Brezden-Masley, C. & Charames, G.S. Comprehensive genomic profiling for oncological advancements by precision medicine. Med Oncol 41, 1 (2024). https://doi.org/10.1007/s12032-023-02228-x

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