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Erschienen in: Medical Oncology 1/2024

01.01.2024 | Review Article

Comprehensive genomic profiling for oncological advancements by precision medicine

verfasst von: Maya Pankiw, Christine Brezden-Masley, George S. Charames

Erschienen in: Medical Oncology | Ausgabe 1/2024

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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.
Literatur
4.
Zurück zum Zitat Geoffery MC. The cell. 2nd ed. Sunderland: Sinauer Associates Inc; 2000. Geoffery MC. The cell. 2nd ed. Sunderland: Sinauer Associates Inc; 2000.
14.
Zurück zum Zitat Rapoport BL, Troncone G, Schmitt F, Nayler SJ. Comprehensive genomic profiling. Oxford: S. Karger Publishers Ltd; 2020.CrossRef Rapoport BL, Troncone G, Schmitt F, Nayler SJ. Comprehensive genomic profiling. Oxford: S. Karger Publishers Ltd; 2020.CrossRef
20.
Zurück zum Zitat Lodish H, Berk A, Zipursky S. Proto-oncogenes and tumor-suppressor genes. Molecular cell biology. 4th ed. New York: W. H. Freeman; 2000. Lodish H, Berk A, Zipursky S. Proto-oncogenes and tumor-suppressor genes. Molecular cell biology. 4th ed. New York: W. H. Freeman; 2000.
23.
Zurück zum Zitat Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, et al. Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med. 2018;142:321–46. https://doi.org/10.5858/arpa.2017-0388-CP.CrossRefPubMed Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, et al. Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med. 2018;142:321–46. https://​doi.​org/​10.​5858/​arpa.​2017-0388-CP.CrossRefPubMed
28.
Zurück zum Zitat Schneider K, Zelly K, Nichols KE, Garber J. Li-Fraumeni Syndrome . In: Adam M, Ardinger H, Pagon R, editors. GeneReviews, Seattle: University of Washington; 2019. Schneider K, Zelly K, Nichols KE, Garber J. Li-Fraumeni Syndrome . In: Adam M, Ardinger H, Pagon R, editors. GeneReviews, Seattle: University of Washington; 2019.
37.
48.
Zurück zum Zitat Fellner C. Ipilimumab (yervoy) prolongs survival in advanced melanoma: serious side effects and a hefty price tag may limit its use. Pharm Ther. 2012;37:503. Fellner C. Ipilimumab (yervoy) prolongs survival in advanced melanoma: serious side effects and a hefty price tag may limit its use. Pharm Ther. 2012;37:503.
52.
Zurück zum Zitat Han Y, Liu D, Li L. PD-1/PD-L1 pathway: current researches in cancer. Am J Cancer Res. 2020;10:727.PubMedCentral Han Y, Liu D, Li L. PD-1/PD-L1 pathway: current researches in cancer. Am J Cancer Res. 2020;10:727.PubMedCentral
68.
Zurück zum Zitat Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–57.PubMed Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–57.PubMed
70.
Zurück zum Zitat Andre T, Amonkar M, Norquist JM, Shiu K-K, Kim TW, Jensen BV, et al. Health-related quality of life in patients with microsatellite instability-high or mismatch repair deficient metastatic colorectal cancer treated with first-line pembrolizumab versus chemotherapy (KEYNOTE-177): an open-label, randomised, phase 3 trial. Lancet Oncol. 2021;22:665–77. https://doi.org/10.1016/S1470-2045(21)00064-4.CrossRefPubMed Andre T, Amonkar M, Norquist JM, Shiu K-K, Kim TW, Jensen BV, et al. Health-related quality of life in patients with microsatellite instability-high or mismatch repair deficient metastatic colorectal cancer treated with first-line pembrolizumab versus chemotherapy (KEYNOTE-177): an open-label, randomised, phase 3 trial. Lancet Oncol. 2021;22:665–77. https://​doi.​org/​10.​1016/​S1470-2045(21)00064-4.CrossRefPubMed
96.
Zurück zum Zitat Chakravarty D, Solit DB. Clinical cancer genomic profiling. Nature 2021. Chakravarty D, Solit DB. Clinical cancer genomic profiling. Nature 2021.
Metadaten
Titel
Comprehensive genomic profiling for oncological advancements by precision medicine
verfasst von
Maya Pankiw
Christine Brezden-Masley
George S. Charames
Publikationsdatum
01.01.2024
Verlag
Springer US
Erschienen in
Medical Oncology / Ausgabe 1/2024
Print ISSN: 1357-0560
Elektronische ISSN: 1559-131X
DOI
https://doi.org/10.1007/s12032-023-02228-x

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