Top

Published in:

01-01-2024 | Checkpoint Inhibitors | Review Article

Comprehensive genomic profiling for oncological advancements by precision medicine

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

Published in: Medical Oncology | Issue 1/2024

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.

Lee H, Ross JS. The potential role of comprehensive genomic profiling to guide targeted therapy for patients with biliary cancer. Therap Adv Gastroenterol. 2017;10:507–20. https://doi.org/10.1177/1756283X17698090.CrossRefPubMedPubMedCentral

Kou T, Kanai M, Yamamoto Y, Kamada M, Nakatsui M, Sakuma T, et al. Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors. Cancer Sci. 2017;108:1440–6. https://doi.org/10.1111/cas.13265.CrossRefPubMedPubMedCentral

Weinstein IB, Case K. The history of cancer research: introducing an AACR centennial series. Cancer Res. 2008;68:6861–2. https://doi.org/10.1158/0008-5472.CAN-08-2827.CrossRefPubMed

Geoffery MC. The cell. 2nd ed. Sunderland: Sinauer Associates Inc; 2000.

Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010;11:685–96. https://doi.org/10.1038/nrg2841.CrossRefPubMed

Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, et al. Genomic basis for RNA alterations in cancer. Nature. 2020;578:129–36. https://doi.org/10.1038/s41586-020-1970-0.CrossRefPubMedPubMedCentral

Comprehensive Genomic Profiling (CGP): Cancer genomic profiling benefits. Illumina n.d. https://www.illumina.com/areas-of-interest/cancer/clinical-cancer-research/cgp.html. Accessed 9 July 2021. Accessed 7 Sept 2021.

Luo W, Tian P, Wang Y, Xu H, Chen L, Tang C, et al. Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers. Int J Cancer. 2018;143:1696–705. https://doi.org/10.1002/ijc.31542.CrossRefPubMedPubMedCentral

Malone ER, Oliva M, Sabatini PJB, Stockley TL, Siu LL. Molecular profiling for precision cancer therapies. Genome Med. 2020;12:1–19. https://doi.org/10.1186/s13073-019-0703-1.CrossRef

10.

Krzyszczyk P, Acevedo A, Davidoff EJ, Timmins LM, Marrero-Berrios I, Patel M, et al. The growing role of precision and personalized medicine for cancer treatment. Technology. 2018;06:79–100. https://doi.org/10.1142/S2339547818300020.CrossRef

11.

Tsimberidou AM, Fountzilas E, Nikanjam M, Kurzrock R. Review of precision cancer medicine: evolution of the treatment paradigm. Cancer Treat Rev. 2020;86: 102019. https://doi.org/10.1016/j.ctrv.2020.102019.CrossRefPubMedPubMedCentral

12.

Pal M, Muinao T, Boruah HPD, Mahindroo N. Current advances in prognostic and diagnostic biomarkers for solid cancers: detection techniques and future challenges. Biomed Pharmacother. 2022;146: 112488. https://doi.org/10.1016/j.biopha.2021.112488.CrossRefPubMed

13.

Mateo J, Steuten L, Aftimos P, André F, Davies M, Garralda E, et al. Delivering precision oncology to patients with cancer. Nat Med. 2022;28:658–65. https://doi.org/10.1038/s41591-022-01717-2.CrossRefPubMed

14.

Rapoport BL, Troncone G, Schmitt F, Nayler SJ. Comprehensive genomic profiling. Oxford: S. Karger Publishers Ltd; 2020.CrossRef

15.

Simon R, Roychowdhury S. Implementing personalized cancer genomics in clinical trials. Nat Rev Drug Discov. 2013;12:358–69. https://doi.org/10.1038/nrd3979.CrossRefPubMed

16.

Treatment. Canadian Cancer Society 2021. www.cancer.ca. https://www.cancer.ca/en/cancer-information/diagnosis-and-treatment/treatment/?region=on. Accessed 8 Sept 2021.

17.

Zugazagoitia J, Guedes C, Ponce S, Ferrer I, Molina-Pinelo S, Paz-Ares L. Current challenges in cancer treatment. Clin Ther. 2016;38:1551–66. https://doi.org/10.1016/j.clinthera.2016.03.026.CrossRefPubMed

18.

Looney A-M, Nawaz K, Webster RM. Tumour-agnostic therapies. Nat Rev Drug Discov. 2020;19:383–4. https://doi.org/10.1038/d41573-020-00015-1.CrossRef

19.

Haslam A, Olivier T, Tuia J, Prasad V. Umbrella review of basket trials testing a drug in tumors with actionable genetic biomarkers. BMC Cancer. 2023;23:46. https://doi.org/10.1186/s12885-022-10421-w.CrossRefPubMedPubMedCentral

20.

Lodish H, Berk A, Zipursky S. Proto-oncogenes and tumor-suppressor genes. Molecular cell biology. 4th ed. New York: W. H. Freeman; 2000.

21.

Jones AS. Chaos, cancer, the cellular operating system and the prediction of survival in head and neck cancer. Outcome Predict Cancer. 2007. https://doi.org/10.1016/B978-044452855-1/50007-6.CrossRefPubMed

22.

Raphael BJ, Dobson JR, Oesper L, Vandin F. Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine. Genome Med. 2014;6:1–17. https://doi.org/10.1186/gm524.CrossRef

23.

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

24.

Toufektchan E, Toledo F. The guardian of the genome revisited: p53 downregulates genes required for telomere maintenance, DNA repair, and centromere structure. Cancers. 2018;10:135. https://doi.org/10.3390/cancers10050135.CrossRefPubMedPubMedCentral

25.

Cadwell C, Zambetti GP. The effects of wild-type p53 tumor suppressor activity and mutant p53 gain-of-function on cell growth. Gene. 2001;277:15–30. https://doi.org/10.1016/S0378-1119(01)00696-5.CrossRefPubMed

26.

Perri F, Pisconti S, della Vittoria Scarpati G. P53 mutations and cancer: a tight linkage. Ann Transl Med 2016. https://doi.org/10.21037/atm.2016.12.40.

27.

Zhu G, Pan C, Bei J-X, Li B, Liang C, Xu Y, et al. Mutant p53 in cancer progression and targeted therapies. Front Oncol. 2020;10: 595187. https://doi.org/10.3389/fonc.2020.595187.CrossRefPubMedPubMedCentral

28.

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.

29.

Correa H. Li-fraumeni syndrome. J Pediatr Genet. 2016. https://doi.org/10.1055/s-0036-1579759.CrossRefPubMedPubMedCentral

30.

Liang X, Vacher S, Boulai A, Bernard V, Baulande S, Bohec M, et al. Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer. Breast Cancer Res. 2018;20:1–12. https://doi.org/10.1186/s13058-018-1007-x.CrossRef

31.

Leading Diagnostics Companies Join Forces to Establish Access to Comprehensive Genomic Profiling Coalition. Laboratory Corporation of America Holdings n.d. https://ir.labcorp.com/news-releases/news-release-details/leading-diagnostics-companies-join-forces-establish-access. Accessed 7 Sept 2021.

32.

Loscalzo J, Handy DE. Epigenetic modifications: basic mechanisms and role in cardiovascular disease (2013 Grover Conference Series). Pulm Circ. 2014;4:169–74. https://doi.org/10.1086/675979.CrossRefPubMedPubMedCentral

33.

Kamińska K, Nalejska E, Kubiak M, Wojtysiak J, Żołna Ł, Kowalewski J, et al. Prognostic and predictive epigenetic biomarkers in oncology. Mol Diagn Ther. 2019;23:83–95. https://doi.org/10.1007/s40291-018-0371-7.CrossRefPubMed

34.

TruSight Oncology 500 Assay For Pan-Cancer Biomerkers in DNA and RNA . Illumina n.d. https://www.illumina.com/products/by-type/clinical-research-products/trusight-oncology-500.html. Accessed 7 Sept 2021.

35.

Non-Small Cell Lung Cancer Targeted Drug Therapy. American Cancer Society n.d. https://www.cancer.org/cancer/lung-cancer/treating-non-small-cell/targeted-therapies.html#references. Accessed 7 Sept 2021.

36.

Non-Small Cell Lung Cancer Treatment. NCCN Clinical Practice Guidelines in Oncology 2021. https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1450. Accessed 7 Sept 2021.

37.

Fransson Å, Glaessgen D, Alfredsson J, Wiman KG, Bajalica-Lagercrantz S, Mohell N. Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer. J Ovarian Res. 2016;9:1–10. https://doi.org/10.1186/s13048-016-0239-6.CrossRef

38.

Synnott NC, O’Connell D, Crown J, Duffy MJ. COTI-2 reactivates mutant p53 and inhibits growth of triple-negative breast cancer cells. Breast Cancer Res Treat. 2020;179:47–56. https://doi.org/10.1007/s10549-019-05435-1.CrossRefPubMed

39.

Pestinger V, Smith M, Sillo T, Findlay JM, Laes J-F, Martin G, et al. Use of an integrated pan-cancer oncology enrichment next-generation sequencing assay to measure tumour mutational burden and detect clinically actionable variants. Mol Diagn Ther. 2020;24:339–49. https://doi.org/10.1007/s40291-020-00462-x.CrossRefPubMedPubMedCentral

40.

Liu L, Garbutt C, Golkaram M, Kaplan S, Martins M, Casino S, et al. Microsatellite instability testing and lynch syndrome screening for colorectal cancer patients through tumour sequencing. Ann Oncol. 2019;30: v574. https://doi.org/10.1093/annonc/mdz257.001.CrossRef

41.

Cuppens K, Froyen G, Cruys B, Geerdens E, Achten R, Vanbockrijck M, et al. P2.04-76 tumor mutational burden by TSO500 next generation sequencing panel and clinical outcome in non-small cell lung cancer. J Thorac Oncol. 2019;14:S738-9. https://doi.org/10.1016/j.jtho.2019.08.1581.CrossRef

42.

Wei B, Kang J, Kibukawa M, Arreaza G, Maguire M, Chen L, et al. Evaluation of the trusight oncology 500 assay for routine clinical testing of tumor mutational burden (TMB) and clinical utility for predicting response to pembrolizumab. J Immunother Cancer. 2020. https://doi.org/10.1136/jitc-2020-SITC2020.0080.CrossRefPubMedPubMedCentral

43.

Koury J, Lucero M, Cato C, Chang L, Geiger J, Henry D, et al. Immunotherapies: exploiting the immune system for cancer treatment. J Immunol Res. 2018. https://doi.org/10.1155/2018/9585614.CrossRefPubMedPubMedCentral

44.

Buchbinder EI, Desai A. CTLA-4 and PD-1 pathways. Am J Clin Oncol. 2016;39:98. https://doi.org/10.1097/COC.0000000000000239.CrossRefPubMedPubMedCentral

45.

Alegre M-L, Frauwirth KA, Thompson CB. T-cell regulation by CD28 and CTLA-4. Nat Rev Immunol. 2001;1:220–8. https://doi.org/10.1038/35105024.CrossRefPubMed

46.

Hosseini A, Gharibi T, Marofi F, Babaloo Z, Baradaran B. CTLA-4: from mechanism to autoimmune therapy. Int Immunopharmacol. 2020;80: 106221. https://doi.org/10.1016/j.intimp.2020.106221.CrossRefPubMed

47.

Zou W, Chen L. Inhibitory B7-family molecules in the tumour microenvironment. Nat Rev Immunol. 2008;8:467–77. https://doi.org/10.1038/nri2326.CrossRefPubMed

48.

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.

49.

Seidel JA, Otsuka A, Kabashima K. Anti-PD-1 and anti-CTLA-4 therapies in cancer: mechanisms of action, efficacy, and limitations. Front Oncol. 2018;8:86. https://doi.org/10.3389/fonc.2018.00086.CrossRefPubMedPubMedCentral

50.

Sharpe AH, Pauken KE. The diverse functions of the PD1 inhibitory pathway. Nat Rev Immunol. 2018;18:153–67. https://doi.org/10.1038/nri.2017.108.CrossRef

51.

Dong Y, Sun Q, Zhang X. PD-1 and its ligands are important immune checkpoints in cancer. Oncotarget. 2017;8:2171. https://doi.org/10.18632/oncotarget.13895.CrossRefPubMed

52.

Han Y, Liu D, Li L. PD-1/PD-L1 pathway: current researches in cancer. Am J Cancer Res. 2020;10:727.PubMedCentral

53.

Jiang X, Wang J, Deng X, Xiong F, Ge J, Xiang B, et al. Role of the tumor microenvironment in PD-L1/PD-1-mediated tumor immune escape. Mol Cancer. 2019;18:1–17. https://doi.org/10.1186/s12943-018-0928-4.CrossRef

54.

Lemery S, Keegan P, Pazdur R. First FDA approval agnostic of cancer site—when a biomarker defines the indication. N Engl J Med. 2017;377:1409–12. https://doi.org/10.1056/NEJMp1709968.CrossRefPubMed

55.

Smith KM, Desai J. Nivolumab for the treatment of colorectal cancer. Expert Rev Anticancer Ther. 2018;18:611–8. https://doi.org/10.1080/14737140.2018.1480942.CrossRefPubMed

56.

Ferris RL, Blumenschein G, Fayette J, Guigay J, Colevas AD, Licitra L, et al. Nivolumab for recurrent squamous-cell carcinoma of the head and neck. N Engl J Med. 2016;375:1856–67. https://doi.org/10.1056/NEJMoa1602252.CrossRefPubMedPubMedCentral

57.

Yang Y. Cancer immunotherapy: harnessing the immune system to battle cancer. J Clin Investig. 2015;125:3335–7. https://doi.org/10.1172/JCI83871.CrossRefPubMedPubMedCentral

58.

Yi M, Qin S, Zhao W, Yu S, Chu Q, Wu K. The role of neoantigen in immune checkpoint blockade therapy. Exp Hematol Oncol. 2018;7:1–11. https://doi.org/10.1186/s40164-018-0120-y.CrossRef

59.

Wang P, Chen Y, Wang C. Beyond tumor mutation burden: tumor neoantigen burden as a biomarker for immunotherapy and other types of therapy. Front Oncol. 2021;11: 672677. https://doi.org/10.3389/fonc.2021.672677.CrossRefPubMedCentral

60.

Sivapiragasam A, Ashok Kumar P, Sokol ES, Albacker LA, Killian JK, Ramkissoon SH, et al. Predictive biomarkers for immune checkpoint inhibitors in metastatic breast cancer. Cancer Med. 2021;10:53–61. https://doi.org/10.1002/cam4.3550.CrossRefPubMed

61.

Guo M, Mei L, Maxwell CA. Genetic instability. Reference Module Biomed Sci. 2017. https://doi.org/10.1016/B978-0-12-801238-3.65013-4.CrossRef

62.

Cho YH, Jung SI, Hwang EC. Novel and emerging surveillance markers for bladder cancer. Bladder Cancer. 2018. https://doi.org/10.1016/B978-0-12-809939-1.00031-X.CrossRef

63.

Svrcek M, Lascols O, Cohen R, Collura A, Jonchère V, Fléjou J-F, et al. MSI/MMR-deficient tumor diagnosis: which standard for screening and for diagnosis? Diagnostic modalities for the colon and other sites: differences between tumors. Bull Cancer. 2019;106:119–28. https://doi.org/10.1016/j.bulcan.2018.12.008.CrossRefPubMed

64.

Drescher KM, Sharma P, Lynch HT. Current hypotheses on how microsatellite instability leads to enhanced survival of lynch syndrome patients. Clin Dev Immunol. 2010. https://doi.org/10.1155/2010/170432.CrossRefPubMedPubMedCentral

65.

Yao J, Arcila ME, Ladanyi M, Hechtman JF. Pan-cancer biomarkers: changing the landscape of molecular testing. Arch Pathol Lab Med. 2021;145:692–8. https://doi.org/10.5858/arpa.2020-0513-RA.CrossRefPubMed

66.

Ballhausen A, Przybilla MJ, Jendrusch M, Haupt S, Pfaffendorf E, Seidler F, et al. The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution. Nat Commun. 2020;11:4740. https://doi.org/10.1038/s41467-020-18514-5.CrossRefPubMedPubMedCentral

67.

Sahin IH, Akce M, Alese O, Shaib W, Lesinski GB, El-Rayes B, et al. Immune checkpoint inhibitors for the treatment of MSI-H/MMR-D colorectal cancer and a perspective on resistance mechanisms. Br J Cancer. 2019;121:809–18. https://doi.org/10.1038/s41416-019-0599-y.CrossRefPubMedPubMedCentral

68.

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

69.

André T, Shiu K-K, Kim TW, Jensen BV, Jensen LH, Punt C, et al. Pembrolizumab in microsatellite-instability—high advanced colorectal cancer. N Engl J Med. 2020;383:2207–18. https://doi.org/10.1056/NEJMoa2017699.CrossRefPubMed

70.

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

71.

Ritterhouse LL. Tumor mutational burden. Cancer Cytopathol. 2019;127:735–6. https://doi.org/10.1002/cncy.22174.CrossRefPubMed

72.

Sha D, Jin Z, Budczies J, Kluck K, Stenzinger A, Sinicrope FA. Tumor mutational burden as a predictive biomarker in solid tumors. Cancer Discov. 2020;10:1808–25. https://doi.org/10.1158/2159-8290.CD-20-0522.CrossRefPubMedPubMedCentral

73.

Goodman AM, Kato S, Bazhenova L, Patel SP, Frampton GM, Miller V, et al. Tumor mutational burden as an independent predictor of response to immunotherapy in diverse cancers. Mol Cancer Ther. 2017;16:2598–608. https://doi.org/10.1158/1535-7163.MCT-17-0386.CrossRefPubMedPubMedCentral

74.

Johnson A, Severson E, Gay L, Vergilio J, Elvin J, Suh J, et al. Comprehensive genomic profiling of 282 pediatric low- and high-grade gliomas reveals genomic drivers, tumor mutational burden, and hypermutation signatures. Oncologist. 2017;22:1478–90. https://doi.org/10.1634/theoncologist.2017-0242.CrossRefPubMedPubMedCentral

75.

Chan TA, Yarchoan M, Jaffee E, Swanton C, Quezada SA, Stenzinger A, et al. Development of tumor mutation burden as an immunotherapy biomarker: utility for the oncology clinic. Ann Oncol. 2019;30:44–56. https://doi.org/10.1093/annonc/mdy495.CrossRefPubMed

76.

Peng M, Mo Y, Wang Y, Wu P, Zhang Y, Xiong F, et al. Neoantigen vaccine: an emerging tumor immunotherapy. Mol Cancer. 2019;18:1–14. https://doi.org/10.1186/s12943-019-1055-6.CrossRefPubMedPubMedCentral

77.

Strickler JH, Hanks BA, Khasraw M. Tumor mutational burden as a predictor of immunotherapy response: is more always better? Clin Cancer Res. 2021;27:1236–41. https://doi.org/10.1158/1078-0432.CCR-20-3054.CrossRefPubMed

78.

Gainor JF, Rizvi H, Jimenez Aguilar E, Skoulidis F, Yeap BY, Naidoo J, et al. Clinical activity of programmed cell death 1 (PD-1) blockade in never, light, and heavy smokers with non-small-cell lung cancer and PD-L1 expression ≥50%. Ann Oncol. 2020;31:404–11. https://doi.org/10.1016/j.annonc.2019.11.015.CrossRefPubMed

79.

Chae YK, Davis AA, Raparia K, Agte S, Pan A, Mohindra N, et al. Association of tumor mutational burden with DNA repair mutations and response to anti-PD-1/PD-L1 therapy in non-small-cell lung cancer. Clin Lung Cancer. 2019;20:88–96. https://doi.org/10.1016/j.cllc.2018.09.008.CrossRef

80.

Kim JY, Kronbichler A, Eisenhut M, Hong SH, van der Vliet HJ, Kang J, et al. Tumor mutational burden and efficacy of immune checkpoint inhibitors: a systematic review and meta-analysis. Cancers. 2019;11:1798. https://doi.org/10.3390/cancers11111798.CrossRefPubMedPubMedCentral

81.

Twomey JD, Zhang B. Cancer immunotherapy update: FDA-approved checkpoint inhibitors and companion diagnostics. AAPS J. 2021;23:1–11. https://doi.org/10.1208/s12248-021-00574-0.CrossRef

82.

Vaddepally RK, Kharel P, Pandey R, Garje R, Chandra AB. Review of indications of FDA-approved immune checkpoint inhibitors per NCCN guidelines with the level of evidence. Cancers. 2020;12:738. https://doi.org/10.3390/cancers12030738.CrossRefPubMedCentral

83.

Milbury CA, Creeden J, Yip W-K, Smith DL, Pattani V, Maxwell K, et al. Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors. PLoS ONE. 2022;17: e0264138. https://doi.org/10.1371/journal.pone.0264138.CrossRefPubMedPubMedCentral

84.

List of Cleared or Approved Companion Diagnostic Devices . US Food and Drug Administration 2021. https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools. Accessed 7 Sept 2021.

85.

Kokkat TJ, Patel MS, McGarvey D, LiVolsi VA, Baloch ZW. Archived Formalin-Fixed Paraffin-Embedded (FFPE) blocks: a valuable underexploited resource for extraction of DNA, RNA, and protein. Biopreserv Biobank. 2013;11:101–6. https://doi.org/10.1089/bio.2012.0052.CrossRefPubMedCentral

86.

Mathieson W, Thomas GA. Why formalin-fixed, paraffin-embedded biospecimens must be used in genomic medicine: an evidence-based review and conclusion. J Histochem Cytochem. 2020;68:543–52. https://doi.org/10.1369/0022155420945050.CrossRefPubMedPubMedCentral

87.

Nakamura Y, Taniguchi H, Ikeda M, Bando H, Kato K, Morizane C, et al. Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies. Nat Med. 2020;26:1859–64. https://doi.org/10.1038/s41591-020-1063-5.CrossRefPubMed

88.

Luo SY, Lam DC. Oncogenic driver mutations in lung cancer. Transl Respir Med. 2013;1:1–8. https://doi.org/10.1186/2213-0802-1-6.CrossRef

89.

Birkó Z, Nagy B, Klekner Á, Virga J. Novel molecular markers in glioblastoma—benefits of liquid biopsy. Int J Mol Sci. 2020;21:7522. https://doi.org/10.3390/ijms21207522.CrossRefPubMedPubMedCentral

90.

Delmonico L, Alves G, Bines J. Cell free DNA biology and its involvement in breast carcinogenesis. Adv Clin Chem. 2020;97:171–223. https://doi.org/10.1016/bs.acc.2019.12.006.CrossRefPubMed

91.

Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic—implementation issues and future challenges. Nat Rev Clin Oncol. 2021;18:297–312. https://doi.org/10.1038/s41571-020-00457-x.CrossRefPubMed

92.

Shohdy KS, West H. Circulating tumor DNA testing—liquid biopsy of a cancer. JAMA Oncol. 2020;6:792. https://doi.org/10.1001/jamaoncol.2020.0346.CrossRefPubMed

93.

Markou A, Tzanikou E, Lianidou E. The potential of liquid biopsy in the management of cancer patients. Semin Cancer Biol. 2022;84:69–79. https://doi.org/10.1016/j.semcancer.2022.03.013.CrossRefPubMed

94.

Stadler J-C, Belloum Y, Deitert B, Sementsov M, Heidrich I, Gebhardt C, et al. Current and future clinical applications of ctDNA in immuno-oncology. Cancer Res. 2022;82:349–58. https://doi.org/10.1158/0008-5472.CAN-21-1718.CrossRefPubMed

95.

Keller L, Belloum Y, Wikman H, Pantel K. Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond. Br J Cancer. 2021;124:345–58. https://doi.org/10.1038/s41416-020-01047-5.CrossRefPubMed

96.

Chakravarty D, Solit DB. Clinical cancer genomic profiling. Nature 2021.

97.

Thapa B, Ahmed G, Szabo A, Kamgar M, Kilari D, Mehdi M, et al. Comprehensive genomic profiling: does timing matter? Front Oncol. 2023;13:1025367. https://doi.org/10.3389/fonc.2023.1025367.CrossRefPubMedPubMedCentral

98.

Omura T, Takahashi M, Ohno M, Miyakita Y, Yanagisawa S, Tamura Y, et al. Clinical application of comprehensive genomic profiling tests for diffuse gliomas. Cancers. 2022;14:2454. https://doi.org/10.3390/cancers14102454.CrossRefPubMedPubMedCentral

99.

Ida H, Koyama T, Mizuno T, Sunami K, Kubo T, Sudo K, et al. Clinical utility of comprehensive genomic profiling tests for advanced or metastatic solid tumor in clinical practice. Cancer Sci. 2022;113:4300–10. https://doi.org/10.1111/cas.15586.CrossRefPubMedPubMedCentral

Title: Comprehensive genomic profiling for oncological advancements by precision medicine
Authors: Maya Pankiw
Christine Brezden-Masley
George S. Charames
Publication date: 01-01-2024
Publisher: Springer US
Keywords: Checkpoint Inhibitors
Targeted Therapy
Biomarkers
Published in: Medical Oncology / Issue 1/2024
Print ISSN: 1357-0560
Electronic ISSN: 1559-131X
DOI: https://doi.org/10.1007/s12032-023-02228-x

Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin

Prof. Florian Limbourg

Prof. Anoop Chauhan

Developed by: Springer Medicine

Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits

Illustration of figure on mountain summit/© Orapun / Stock.adobe.com, STEP AAG HeroTeaserCollection image/© Tarek / Generated with AI / Stock.adobe.com, ACC 2024 Pediatric and Congenital Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Pulmonary Vascular Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Valvular Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 HF and Cardiomyopathies: Year in Review/© 2024 American College of Cardiology, Woman out walking/© Seventyfour / stock.adobe.com (symbolic image with model), Woman checking smartwatch /© saltdium / stock.adobe.com (symbolic image with model), Cardiac catheterization/© Damian / stock.adobe.com

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2024

Understanding the charismatic potential of nanotechnology to treat skin carcinoma

Short-term pain control after palliative radiotherapy for uncomplicated bone metastases: a prospective cohort study

Immune checkpoint inhibitors and cancer immunotherapy by aptamers: an overview

Recombinant human endostatin as a potential anti-angiogenic agent: therapeutic perspective and current status

COX 2-inhibitors; a thorough and updated survey into combinational therapies in cancers

Oncolytic viruses improve cancer immunotherapy by reprogramming solid tumor microenvironment

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

Highlights from the ACC 2024 Congress

ACC 2024 Congress Coverage