Farmacogenética del cáncer

  1. Lorena Cuervo del Pozo 1
  1. 1 Universidad de Oviedo
    info

    Universidad de Oviedo

    Oviedo, España

    ROR https://ror.org/006gksa02

Revista:
NPunto

ISSN: 2603-9680 2605-0110

Año de publicación: 2022

Volumen: 5

Número: 56

Páginas: 144-174

Tipo: Artículo

Otras publicaciones en: NPunto

Resumen

Pharmacogenetics is resposible for studying the incidence of interindividual genetics variantions on drug response. The polymorphisms in the genoma of each individual cause different body response to environmental factors, different susceptibility to infections or different response to the administration of the same drug. Thus, pharmacogenetics tries to study these variants to allow patients to receive optimal treatment according to their genetic characteristics, offering the development of personalized medicine strategies that minimize adverse reactions to treatments and therapeutic failures. Cancer is a polygenic and multifactorial disease with high mortality rates. In addition, its treatments involve enormous toxicities and in many cases are associated with resistances, which significantly worsens the patient´s life prognosis. Due to this, the study of the association between gene variants and drug metabolism is important to avoid these therapeutic failures and to be able to optimize therapy for each patient. The study of biomarkers allows evaluating the probability of suffering a specific type of cancer, the prognosis of the disease, and determining the best treatment in terms of efficiency, avoiding adverse reactions. This brief review summarizes the importance of the involvement of pharmacogenetics in the cancer clinic.

Referencias bibliográficas

  • Ab Mutalib NS, Md Yusof NF, Abdul SN, Jamal R. Pharmacogenomics DNA biomarkers in colorectal cancer: Current update. Front Pharmacol. 2017; 8:1–8.
  • Aliaga EM. Informe farmacogenético en el tratamiento de cáncer de mama con tamoxifeno. Aspectos médico-legales [tesis doctoral en internet]. [Madrid]: Universidad Complutense de Madrid; 2019 [Cited 2020 Jun 10]. Available from: https://eprints.ucm.es/50899/1/T40804.pdf.
  • Almazroo OA, Miah MK, Venkataramanan R. Drug Metabolism in the Liver. Clin Liver Dis. 2017; 21(1):1–20.
  • Alonso A, Conejero R, Balmaña J, Mendizabal E, Blanco I, Brunet J. Bases del cáncer hereditario. Cáncer Hered 2a ed. 2010;
  • Annotation of CPIC Guideline for capecitabine and DPYD [Internet]. [cited 2020 Jun 14]. Available from: https://www.pharmgkb.org/guidelineAnnotation/PA166109594
  • Ariza Márquez YV, Briceño Balcázar I, Ancízar Aristizábal F. Tratamiento de cáncer de seno y farmacogenética. Rev Colomb Biotecnol. 2016; 18(1).
  • Armsby AJ, Bombard Y, Garrison NA, Halpern-Felsher BL, Ormond KE. Attitudes of Members of Genetics Professional Societies Toward Human Gene Editing. Cris J. 2019; 2(5):331–9.
  • Balboa-Beltrán E, Duran G, Lamas MJ, Carracedo A, Barros F. Long Survival and Severe Toxicity under 5-Fluorouracil-Based Therapy in a Patient with Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS. Mayo Clin Proc [Internet]. 2015; 90(9):1298–303.
  • BRAF in colorectal cancer: ESMO Biomarker Factsheet [Internet]. [cited 2020 Jun 14]. Available from: https://oncologypro.esmo.org/education-library/factsheets- on-biomarkers/braf-in-colorectal-cancer
  • Castell, J. V. El Metabolismo De Fármacos, Generación De Metabolitos Reactivos Y Su Papel En El Origen De Las Reacciones Inmunológicas a Fármacos. UvEs [Internet].:95–123. Available from: http://www.uv.es/jcastell/Metabolismo_de_farmacos.pdf
  • Castillo A. Colombia Médica. 2016; 47:178–80.
  • Chandrasekaran B, Abed SN, Al-Attraqchi O, Kuche K, Tekade RK. Computer- Aided Prediction of Pharmacokinetic (ADMET) Properties [Internet]. Vol. 2, Dosage Form Design Parameters. Elsevier Inc.; 2018. 731–755 p. Available from: http://dx.doi.org/10.1016/B978-0-12-814421-3.00021-X
  • Chen S, Hua L, Feng C, Mo Q, Wei M, Shen Y, et al. Correlation between UGT1A1 gene polymorphism and irinotecan chemotherapy in metastatic colorectal cancer: A study from Guangxi Zhuang. BMC Gastroenterol. 2020; 20(1):1–13.
  • Colomer R, Aranda-López I, Albanell J, García-Caballero T, Ciruelos E, López- García M, et al. Biomarkers in breast cancer: A consensus statement by the Spanish Society of Medical Oncology and the Spanish Society of Pathology. Clin Transl Oncol. 2018; 20(7):815–26.
  • CRISPR supera su primera gran prueba contra el cáncer y se convierte en la gran esperanza para reforzar las terapias inmunológicas [Internet]. [cited 2020 Jun 15]. Available from: https://www.xataka.com/medicina-y-salud/crispr-supera-su- primera-gran-prueba-cancer-se-convierte-gran-esperanza-para-reforzar-terapias- inmunologicas
  • ¿Cuáles son Proto-Oncogenes? [Internet]. [cited 2020 Jun 14]. Available from: https://www.news-medical.net/life-sciences/What-are-Proto-Oncogenes- (Spanish).aspx
  • Cui W, Li F, Yuan Q, Chen G, Chen C, Yu B. Role of VEGFA gene polymorphisms in colorectal cancer patients who treated with bevacizumab. Oncotarget. 2017; 8(62):105472–8.
  • Daly AK. Pharmacogenetics: A general review on progress to date. Br Med Bull. 2017; 124(1):65–79.
  • Dapia I, Lapunzina P (dir.); Borobia, AM (dir). La farmacogenética como herramienta de la medicina personalizada: desarrollo de estrategias para su implementación en la práctica clínica e identificación de nuevas asociaciones [tesis doctoral en Internet]. [Madrid]: Universidad Autónoma de Madrid. 2019 [cited 2020 Jun 10]. Available from: https://repositorio.uam.es/bitstream/handle/10486/687419/dapia_garcia_irene.pdf?sequence=1.
  • David Cyranoski. CRISPR gene editing tested in a person. Nature. 2016; 539:479.
  • Dekker E, Tanis PJ, Vleugels JLA, Kasi PM, Wallace MB. Colorectal cancer. Lancet [Internet]. 2019; 394(10207):1467–80. Available from: http://dx.doi.org/10.1016/S0140-6736(19)32319-0
  • Drew L. The right drug for you. Nature. 2016; 357(8):S60–2.
  • Ducreux M, Chamseddine A, Laurent-Puig P, Smolenschi C, Hollebecque A, Dartigues P, et al. Molecular targeted therapy of BRAF-mutant colorectal cancer. Ther Adv Med Oncol. 2019; 11:1–15.
  • El Miedany Y. MABS: targeted therapy tailored to the patient’s need. Br J Nurs. 2015; 24(16):S4–13.
  • Eugenomic - ¿Qué significan los diferentes fenotipos? [Internet]. [cited 2020 Jun 13]. Available from: https://www.eugenomic.com/es/home/ayuda/gnomic/significado_fenotipos.html
  • Farreras-Rozman. Medicina Interna. Metabolismo y nutrición. Endocrinología - 17th Edition [Internet]. [cited 2020 Jun 14]. Available from: https://www.elsevier.com/books/farreras-rozman-medicina-interna-metabolismo- y-nutricion-endocrinologia/9788490225950
  • García Peña CM, Menéndez AB, Román GB, Cervera MF, Díaz MC, Trujillo LW, et al. Assessment of the oral acute toxicity and the antimicrobial activity of an oily mixture from shark’s liver of Cuba. Rev Cuba Farm. 2010; 21;44(3):374–80.
  • García-González X. Cortejoso L, García MI, García-Alfonso P, Robles L, Grávalos C, González-haba E, Marta P, Sanjurjo M, López-Fernández LA.Variants in CDA and ABCB1 are predictors of capecitabinerelated adverse reactions in colorectal cancer. Oncotarget 2015;6(8):6422–30.
  • Goetz MP, Sangkuhl K, Guchelaar HJ, Schwab M, Province M, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy. Clin Pharmacol Ther. 2018;103(5):770–7.
  • Haage, P. Forensic Toxicological Aspectsof Tramadol: Focus on Enantioselective Drug Disposition and Pharmacogenetics. Linköping: Linköping University; 2018.
  • Hassanpour SH, Dehghani M. Review of cancer from perspective of molecular. J Cancer Res Pract [Internet]. 2017;4(4):127–9. Available from: http://dx.doi.org/10.1016/j.jcrpr.2017.07.001
  • Hertz DL, Rae J. Pharmacogenetics of Cancer Drugs. Annu Rev Med. 2015; 66:65–81.
  • Hossain MA, Siddique MAB, Zafar Auniq R Bin. Pharmacogenetics: Focus on Breast Cancer Treatment. J Neoplasm. 2017;02(02):3–5.
  • Interacciones fármaco–receptor - Farmacología clínica - Manual MSD versión para profesionales [Internet]. [cited 2020 Jun 13]. Available from: https://www.msdmanuals.com/es-es/professional/farmacología- clínica/farmacodinámica/interacciones-fármaco–receptor
  • irinotecan - Clinical Guideline Annotations [Internet]. [cited 2020 Jun 15]. Available from: https://www.pharmgkb.org/chemical/PA450085/guidelineAnnotation/PA166104 951
  • Jeibouei S, Akbari ME, Kalbasi A, Aref AR, Ajoudanian M, Rezvani A, et al. Personalized medicine in breast cancer: Pharmacogenomics approaches. Pharmgenomics Pers Med. 2019; 12:59–73.
  • Jovicic N, Babic T, Dragicevic S, Nestorovic B, Nikolic A. ADRB2 gene polymorphisms and salbutamol responsiveness in Serbian children with asthma. Balk J Med Genet. 2018; 21(1):33–8.
  • Kansu B, Lang D. Genetic polymorphisms as predictive markers for statin therapy: a route to improved cardiovascular patient outcomes? Biosci Horizons Int J Student Res. 2017; 10:1–8.
  • Kirchner T, Jung A, Folwaczny M, Yang D. Predictive for Cetuximab Efficacy in Colorectal Cancer. 2016; 14(10):2374–81.
  • Kuschner. Drug Metabolism in Preclinical Drug Development: A Survey of the Discovery Process, Toxicology, and Computational Tools. Physiol Behav. 2017; 176(3):139–48.
  • Kuschner. Pharmacogenetics: Using Genetic Information to Guide Drug Therapy. Physiol Behav. 2017; 176(3):139–48.
  • Kuschner. Translation in Data Mining to Advance Personalized Medicine for Health Equity. Physiol Behav. 2017; 176(3):139–48.
  • Lam SW, Guchelaar HJ. Cancer Treat Rev 2016 (in press). 2016;2016.
  • Listado de proyectos - Fundación Ramón Areces [Internet]. [cited 2020 Jun 15]. Available from: https://www.fundacionareces.es/fundacionareces/es/becas-y- ayudas/proyectos-de-investigacion/listado-de-proyectos/farmacogenetica-en- cancer-colorrectal.html?idAmbito=1
  • López-Cortés A, Paz-y-Miño C, Guerrero S, Jaramillo-Koupermann G, León Cáceres Á, Intriago-Baldeón DP, et al. Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer. Pharmacogenomics J. 2020;20(1):136- 58.
  • Lou Y, Wang Q, Zheng J, Hu H, Liu L, Hong D, et al. Possible Pathways of Capecitabine-Induced Hand-Foot Syndrome. Chem Res Toxicol. 2016; 29(10):1591–601.
  • Lu DY, Lu TR, Xu B, Ding J. Pharmacogenetics of cancer therapy: Breakthroughs from beyond? Futur Sci OA. 2015;1(4).
  • Lucas MJ, Martín-Aragón, M. (dir) . Estrés y acontecimientos vitales en mujeres con cáncer de mama [Tesis doctoral en Internet]. [Elche]: Universidad Miguel Hernández; 2017 [Cited 2020 Jun 10]. Available from: http://dspace.umh.es/bitstream/11000/4455/1/Tesis%20Lucas%20Cort%C3%A9s%2C%20Mar%C3%ADa%20Jos%C3%A9.pdf
  • Maeda H, Hazama S, Iwamoto S, Oba K, Tsunedomi R, Okayama N, et al. Association between polymorphisms in EGFR and tumor response during cetuximab and oxaliplatin-based combination therapy in metastatic colorectal cancer: Analysis of data from two clinical trials. Oncol Lett. 2019;18(5):4555–62.
  • Martinez-Lage M, Puig-Serra P, Menendez P, Torres-Ruiz R, Rodriguez-Perales S. CRISPR/Cas9 for cancer therapy: Hopes and challenges. Biomedicines. 2018; 6(4):1–13.
  • Mathur S, Sutton J. Personalized medicine could transform healthcare (Review). Biomed Reports. 2017; 7(1):3–5.
  • McMahon K, Paciorkowski AR, Walters-Sen LC, Milunsky JM, Bassuk A, Darbro B, et al. Neurogenetics in the Genome Era [Internet]. Sixth Edit. Swaiman’s Pediatric Neurology: Principles and Practice: Sixth Edition. Elsevier Inc.; 2017. 257–267 p. Available from: http://dx.doi.org/10.1016/B978-0-323-37101- 8.00034-5
  • Medicina y Melodía: William Osler: citas y aforismos [Internet]. [cited 2020 Jun 12]. Available from: https://medymel.blogspot.com/2018/04/william-osler-citas- y-aforismos.html
  • Miele E, Abballe L, Spinelli GP, Besharat ZM, Catanzaro G, Chiacchiarini M, et al. BRAF mutant colorectal cancer: ErbB2 expression levels as predictive factor for the response to combined BRAF/ErbB inhibitors. BMC Cancer. 2020; 20(1):1– 10.
  • Morales-Pérez M, Garcia-Milian AJ. Papel de la superfamilia ABC en la resistencia farmacológica. Horiz Sanit. 2017;16(2):93.
  • Olivera G, Sendra L, Herrero MJ, Puig C, Aliño SF. Colorectal cancer: Pharmacogenetics support for the correct drug prescription. Pharmacogenomics. 2019; 20(10):741–63.
  • OncoLink Team. Síndrome de mano-pie. [Internet]. [Cited 2020 Jun 10]; Available from: https://es.oncolink.org/tratamiento-del- cancer/quimioterapia/efectos-secundarios/sindrome-de-mano.
  • Padh H. Pharmacogenetics and cancer management. J Cancer Metastasis Treat. 2018; 4(9):52.
  • Parra D, Hidalgo A (dir), Parra J (dir). Optimización farmacocinética y farmacodinámica de los antimicrobianos como pilar en el tratamiento de las infecciones bacterianas por bacterias multirresistentes [tesis doctoral en Internet].[Oviedo]: Universidad de Oviedo, 2015 [Cited 2020 Jun 10]. Available from: http://digibuo.uniovi.es/dspace/bitstream/10651/50389/1/TD_DiegoParraRuiz.pd f
  • Patel JN. Cancer pharmacogenomics, challenges in implementation, and patient- focused perspectives. Pharmgenomics Pers Med. 2016; 9:65–77.
  • Polimorfismos de nucleótido único (SNPs) | NHGRI [Internet]. [cited 2020 Jun 13]. Available from: https://www.genome.gov/es/genetics- glossary/Polimorfismos-de-nucleotido-único
  • Primer ensayo clínico humano con la técnica CRISPR obtiene la luz verde en EE.UU. - Scientific American - Español [Internet]. [cited 2020 Jun 15]. Available from: https://www.scientificamerican.com/espanol/noticias/primer-ensayo- clinico-humano-con-la-tecnica-crispr-obtiene-la-luz-verde-en-ee-uu/
  • Principios básicos de farmacología [Internet]. 2015. [Cited 2020 Jun 10]. Available from: https://www.eupati.eu/es/estudios-no-clinicos/principios-basicos-de- farmacologia/#Farmacocinetica.
  • Priyanka R. Review on Gene Polymorphism. J Pharmacol Toxicol Stud. 2015; 3(1):45–51.
  • Prueban por primera vez en un humano la técnica de edición de genes CRISPR - Scientific American - Español [Internet]. [cited 2020 Jun 15]. Available from: https://www.scientificamerican.com/espanol/noticias/prueban-por-primera-vez- en-un-humano-la-tecnica-de-edicion-de-genes-crispr/
  • ¿Qué es el cáncer y cómo se desarrolla? - SEOM: Sociedad Española de Oncología Médica © 2019 [Internet]. [cited 2020 Jun 14]. Available from: https://seom.org/107-Información al Público - Patologías/ique-es-el-cancer-y- como-se-desarrolla
  • Quiñones L, Roco Á, Cayún JP, Escalante P, Miranda C, Varela N, et al. Farmacogenómica como herramienta fundamental para la medicina personalizada: Aplicaciones en la práctica clínica. Rev Med Chil. 2017; 145(4):483–500.
  • Rajasekhar KK. Drug metabolism. In: Chemical Drug Design. Walter de Gruyter GmbH; 2016. p. 107–63.
  • RAS in Colorectal Cancer: ESMO Biomarker Factsheet [Internet]. [cited 2020 Jun 15]. Available from: https://oncologypro.esmo.org/education-library/factsheets- on-biomarkers/ras-in-colorectal-cancer
  • Relling M V., Klein TE. CPIC: Clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Vol. 89, Clinical Pharmacology and Therapeutics. 2011. p. 464–7.
  • Ruwali M. Pharmacogenetics and Cancer Treatment: Progress and Prospects. Mol Med. 2019; 1-14.
  • Santo GF do E, Galera BB, Duarte EC, Chen ES, Azis L, Damazo AS, et al. Prognostic significance of vascular endothelial growth factor polymorphisms in colorectal cancer patients. World J Gastrointest Oncol. 2017; 9(2):78–86.
  • Seguridad de las herramientas CRISPR para futuros tratamientos contra el cáncer - Gen-Ética [Internet]. [cited 2020 Jun 15]. Available from: https://montoliu.naukas.com/2020/02/09/seguridad-de-las-herramientas-crispr- para-futuros-tratamientos-contra-el-cancer/
  • Serebriiskii IG, Connelly C, Frampton G, Newberg J, Cooke M, Miller V, et al. Comprehensive characterization of RAS mutations in colon and rectal cancers in old and young patients. Nat Commun. 2019; 10(1):1–12.
  • Síndrome mano-pie o eritrodisestesia palmoplantar | Cancer.Net [Internet]. [cited 2020 Jun14]. Available from: https://www.cancer.net/es/asimilación-con- cáncer/efectos-físicos-emocionales-y-sociales-del-cáncer/manejo-de-los-efectos- secundarios-físicos/síndrome-mano-pie-o-eritrodisestesia-palmoplantar
  • Sociedad Española de Oncología Médica. Las cifras del cáncer en España 2020 Hombres. Soc Española Oncol Médica. 2020; 36.
  • Stadtmauer EA, Fraietta JA, Davis MM, Cohen AD, Weber KL, Lancaster E, et al. CRISPR-engineered T cells in patients with refractory cancer. Science (80- ). 2020 Feb 28;367(6481).
  • Table of Pharmacogenomic Biomarkers in Drug Labeling [Internet]. [Cited 2020 Jun 10]. Available from: https://www.fda.gov/media/124784/download
  • Takano M, Sugiyama T. UGTIAI polymorphisms in cancer: Impact on irinotecan treatment. Pharmgenomics Pers Med. 2017;10:61–8.
  • The Role of Pharmacogenetics in Precision Medicine [Internet]. [cited 2020 Jun 15]. Available from: https://www.pharmacytimes.com/publications/issue/2016/july2016/the-role-of- pharmacogenetics-in-precision-medicine
  • Toro Herrera J, Alvarado B, Martínez Cruz L. Frecuencia del polimorfismo inserción/deleción del gen ECA (enzima convertidora de angiotensina) e identificación de factores de riesgo cardiovascular en población de San Luis Potosí. Rev Biomédica. 2015; 26(3):1.
  • Understanding Cancer - NIH Curriculum Supplement Series - NCBI Bookshelf [Internet]. [cited 2020 Jun 14]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK20362/
  • Wang B, Walsh SJ, Saif MW. Pancytopenia and Severe Gastrointestinal Toxicities Associated with 5-Fluorouracil in a Patient with Thymidylate Synthase (TYMS) Polymorphism. Cureus. 2016; 8(9):1–6.
  • What Is Cancer? - National Cancer Institute [Internet]. [cited 2020 Jun 13]. Available from: https://www.cancer.gov/about-cancer/understanding/what-is- cancer
  • Zhang YK, Wang YJ, Gupta P, Chen ZS. Multidrug Resistance Proteins (MRPs) and Cancer Therapy. AAPS J. 2015;17(4):802–12.
  • Zhang Z, Tang W. Drug metabolism in drug discovery and development. Acta Pharm Sin B [Internet]. 2018; 8(5):721–32.