Usefulness of precision medicine in improving prevention, treatment and prognosis in oncology

Utilidad en la prevención, tratamiento y pronóstico de la medicina de precisión en oncología

Introduction: advances in genetics in recent decades has ushered a new era. Precision medicine has used these advances to play an increasingly important role in cancer prevention, diagnosis and treatment. Objetive: was to evaluate the usefulness of precisión medicine in improving prevention, treatment and prognosis in oncology. Discussion: studies on carcinogenesis have propelled the discovery of crucial events in the development of malignant neoplasms, identifying specific molecular subtypes of several common tumors. This has resulted in a better charaterization of tumors, which previously depended only on anatomapathological findings, and has enabled the development of new drugs, which have shifted the oncologic care paradigm. The identification of mutations that may determine predisposition to cancer, such as, BRCA mutations in breast cáncer, has facilitated screening to identify patients and help improve decision making and modify risk. Conclusions: the efficacy of various antitumor therapies suggests the beginning of an era in which preventive actions and clinical decisions will be based on the profile of genetic abnormalities of the tumor, improving patient prognosis and quality of life. This will allow an increase in the use of this type of precision treatments based on the profile of genetic changes.

1. Santos-Cortez RLP, Bhutta MF, Earl JP, Hafrén L, Jennings M, Mell JC, Pichichero ME, Ryan AF, Tateossian H, Ehrlich GD. Panel 3: Genomics, precision medicine and targeted therapies. Int J Pediatr Otorhinolaryngol. 2020;130 Suppl 1(Suppl 1):109835. doi: 10.1016/j.ijporl.2019.109835.
2. Amekyeh H, Tarlochan F, Billa N. Practicality of 3D printed personalized medicines in therapeutics. Front Pharmacol. 2021;12:646836. doi: 10.3389/fphar.2021.646836.
3. Hebar A, Valent P, Selzer E. The impact of molecular targets in cancer drug development: major hurdles and future strategies. Expert Rev Clin Pharmacol. 2013;6(1):23-34. doi: 10.1586/ecp.12.71.
4. Yu Z, Song M, Chouchane L, Ma X. Functional genomic analysis of breast cancer metastasis: implications for diagnosis and therapy. Cancers (Basel). 2021;13(13):3276. doi: 10.3390/cancers13133276.
5. Huebner T, Scholl C, Steffens M. Cytogenetic and biochemical genetic techniques for personalized drug therapy in Europe. Diagnostics (Basel). 2021;11(7):1169. doi: 10.3390/diagnostics11071169.
6. Norrie JL, Nityanandam A, Lai K, Chen X, Wilson M, Stewart E, Griffiths L, Jin H, Wu G, Orr B, Tran Q, Allen S, Reilly C, Zhou X, Zhang J, Newman K, Johnson D, Brennan R, Dyer MA. Retinoblastoma from human stem cell-derived retinal organoids. Nat Commun. 2021;12(1):4535. doi: 10.1038/s41467-021-24781-7.
7. Heck JE, Huang X, Calkins KL, Sun Y, Olsen J, Ritz B, Hansen J. Phototherapy and childhood cancer: Shared risk factors. Int J Cancer. 2020;146(7):2059-2062. doi: 10.1002/ijc.32701.
8. Houlston R. Identification of low-penetrance alleles associated with colon cancer risk. Med Sci (Paris). 2009;25 Spec No 1:39-41. doi: 10.1051/medsci/2009251s39.
9. Capellini A, Williams M, Onel K, Huang KL. The functional hallmarks of cancer predisposition genes. Cancer Manag Res. 2021;13:4351-4357. doi: 10.2147/CMAR.S311548.
10. Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP. Genetic testing and screening recommendations for patients with hereditary breast cancer. Radiographics. 2020;40(4):913-936. doi: 10.1148/rg.2020190181.
11. Howard TP, Vazquez F, Tsherniak A, Hong AL, Rinne M, Aguirre AJ, Boehm JS, Hahn WC. Functional genomic characterization of cancer genomes. Cold Spring Harb Symp Quant Biol. 2016;81:237-246. doi: 10.1101/sqb.2016.81.031070.
12. Kutkowska J, Strzadala L, Rapak A. Synergistic activity of sorafenib and betulinic acid against clonogenic activity of non-small cell lung cancer cells. Cancer Sci. 2017;108(11):2265-2272. doi: 10.1111/cas.13386.
13. Chen L, Liu S, Tao Y. Regulating tumor suppressor genes: post-translational modifications. Signal Transduct Target Ther. 2020;5(1):90. doi: 10.1038/s41392-020-0196-9.
14. Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell. 2011;144(5):646-74. doi: 10.1016/j.cell.2011.02.013.
15. Gisselsson D, Egnell R. Cancer - An insurgency of clones. Trends Cancer. 2017;3(2):73-75. doi: 10.1016/j.trecan.2016.11.010.
16. Soltanian S, Matin MM. Cancer stem cells and cancer therapy. Tumour Biol. 2011;32(3):425-40. doi: 10.1007/s13277-011-0155-8.
17. Beijnen JH, Schellens JH. Personalized medicine in oncology: a personal view with myths and facts. Curr Clin Pharmacol. 2010;5(3):141-7. doi: 10.2174/157488410791498789.
18. Vishwakarma R, McManus KJ. Chromosome instability; Implications in cancer development, progression, and clinical outcomes. Cancers (Basel). 2020;12(4):824. doi: 10.3390/cancers12040824.
19. Mainor CB, Isaacs C. Risk Management for BRCA1/BRCA2 mutation carriers without and with breast cancer. Curr Breast Cancer Rep. 2020;12(2):66-74. doi: 10.1007/s12609-019-00350-2.
20. Lewis KM. Identifying hereditary cancer: genetic counseling and cancer risk assessment. Curr Probl Cancer. 2014;38(6):216-25. doi: 10.1016/j.currproblcancer.2014.10.002.
21. McClellan J, King MC. Genetic heterogeneity in human disease. Cell. 2010;141(2):210-7. doi: 10.1016/j.cell.2010.03.032.
22. Tian H, Gao Z, Li H, Zhang B, Wang G, Zhang Q, Pei D, Zheng J. DNA damage response--a double-edged sword in cancer prevention and cancer therapy. Cancer Lett. 2015;358(1):8-16. doi: 10.1016/j.canlet.2014.12.038.
23. Szczerba E, Kamińska K, Mierzwa T, Misiek M, Kowalewski J, Lewandowska MA. BRCA1/2 mutation detection in the tumor tissue from selected polish patients with breast cancer using Next Generation Sequencing. Genes (Basel). 2021;12(4):519. doi: 10.3390/genes12040519.
24. Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, Hoffman D, Jang W, Kaur K, Liu C, Lyoshin V, Maddipatla Z, Maiti R, Mitchell J, O'Leary N, Riley GR, Shi W, Zhou G, Schneider V, Maglott D, Holmes JB, Kattman BL. ClinVar: improvements to accessing data. Nucleic Acids Res. 2020;48(D1):D835-D844. doi: 10.1093/nar/gkz972.
25. Dumbrava EI, Meric-Bernstam F. Personalized cancer therapy-leveraging a knowledge base for clinical decision-making. Cold Spring Harb Mol Case Stud. 2018;4(2):a001578. doi: 10.1101/mcs.a001578.
26. Hughes E, Tshiaba P, Wagner S, Judkins T, Rosenthal E, Roa B, Gallagher S, Meek S, Dalton K, Hedegard W, Adami CA, Grear DF, Domchek SM, Garber J, Lancaster JM, Weitzel JN, Kurian AW, Lanchbury JS, Gutin A, Robson ME. Integrating clinical and polygenic factors to predict breast cancer risk in women undergoing genetic testing. JCO Precis Oncol. 2021;5:PO.20.00246. doi: 10.1200/PO.20.00246.
27. Qiu J, Xu J, Zhang K, Gu W, Nie L, Wang G, Luo Y. Refining cancer management using integrated liquid biopsy. Theranostics. 2020;10(5):2374-2384. doi: 10.7150/thno.40677.
28. Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P. Molecular pathology of tumors of the central nervous system. Ann Oncol. 2019;30(8):1265-1278. doi: 10.1093/annonc/mdz164.
29. Elkamhawy A, Lu Q, Nada H, Woo J, Quan G, Lee K. The Journey of DDR1 and DDR2 Kinase Inhibitors as Rising Stars in the Fight Against Cancer. Int J Mol Sci. 2021;22(12):6535. doi: 10.3390/ijms22126535.
30. Krzyszczyk P, Acevedo A, Davidoff EJ, Timmins LM, Marrero-Berrios I, Patel M, White C, Lowe C, Sherba JJ, Hartmanshenn C, O'Neill KM, Balter ML, Fritz ZR, Androulakis IP, Schloss RS, Yarmush ML. The growing role of precision and personalized medicine for cancer treatment. Technology (Singap World Sci). 2018;6(3-4):79-100. doi: 10.1142/S2339547818300020.
31. Helgadottir H, Rocha Trocoli Drakensjö I, Girnita A. Personalized medicine in malignant melanoma: Towards patient tailored treatment. Front Oncol. 2018;8:202. doi: 10.3389/fonc.2018.00202.
32. Afrăsânie VA, Marinca MV, Alexa-Stratulat T, Gafton B, Păduraru M, Adavidoaiei AM, Miron L, Rusu C. KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer - practical implications for the clinician. Radiol Oncol. 2019;53(3):265-274. doi: 10.2478/raon-2019-0033.
33. von Manstein V, Yang CM, Richter D, Delis N, Vafaizadeh V, Groner B. Resistance of cancer cells to targeted therapies through the activation of compensating signaling loops. Curr Signal Transduct Ther. 2013;8(3):193-202. doi: 10.2174/1574362409666140206221931.
34. Vieira AF, Schmitt F. An update on breast cancer multigene prognostic tests-emergent clinical biomarkers. Front Med (Lausanne). 2018;5:248. doi: 10.3389/fmed.2018.00248.
35. Schildgen V, Warm M, Brockmann M, Schildgen O. Oncotype DX Breast Cancer recurrence score resists inter-assay reproducibility with RT2-Profiler Multiplex RT-PCR. Sci Rep. 2019;9(1):20266. doi: 10.1038/s41598-019-56910-0.