Mutation detection and molecular targeted tumor therapies
Rapid advancement in genomic technologies has greatly enhanced the potential of clinical recognition and application of molecular targets. Specifically, gene mutation detection technologies are of great significance in the early diagnosis, customized drug delivery guidance, treatment progression, and monitoring of tumor’s drug resistance. Gene mutation detection or genetic typing of patients is a prerequisite for molecular targeted therapies. Most kinds of targeted therapies treat cancers by interfering with specific proteins that are involved in tumorigenesis. Compared with traditional chemotherapies, molecular targeted therapies have many advantages, despite that they still have risks of resistance, side effects and leak of genetic information.
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394-424.
Wang L. Early diagnosis of breast cancer. Sensors (Basel, Switzerland). 2017;17(7).
Wu ZM. [Comparative study of nuclear imaging with 99mTc-PMT, B ultrasound and CT in the diagnosis of hepatic tumors]. Zhonghua Fang She Xue Za Zhi. 1988;22(6):329-33.
Jiang XT, Tao HQ, Zou SC. Detection of serum tumor markers in the diagnosis and treatment of patients with pancreatic cancer. Hepatobiliary Pancreat Dis Int. 2004;3(3):464-8.
Vogelstein B, Kinzler KW. Cancer genes and the pathways they control. Nat Med. 2004;10(8):789-99.
Maiuri MC, Tasdemir E, Criollo A, Morselli E, Vicencio JM, Carnuccio R, et al. Control of autophagy by oncogenes and tumor suppressor genes. Cell Death Differ. 2008;16:87.
Wang Y, Liu L, Chen Z. Transcriptome profiling of cervical cancer cells acquired resistance to cisplatin by deep sequencing. Artif Cells Nanomed Biotechnol. 2019;47(1):2820-9.
Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402-16.
Okamoto I. Epidermal growth factor receptor in relation to tumor development: EGFR-targeted anticancer therapy. FEBS J. 2010;277(2):309-15.
Sapiezynski J, Taratula O, Rodriguez-Rodriguez L, Minko T. Precision targeted therapy of ovarian cancer. J Control Release. 2016;243:250-68.
Sharkey RM, Goldenberg DM. Targeted therapy of cancer: new prospects for antibodies and immunoconjugates. CA Cancer J Clin. 2006;56(4):226-43.
Kelly CM, Power DG, Lichtman SM. Targeted therapy in older patients with solid tumors. J Clin Oncol. 2014;32(24):2635-46.
Harrington CT, Lin EI, Olson MT, Eshleman JR. Fundamentals of pyrosequencing. Arch Pathol Lab Med. 2013;137(9):1296-303.
Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature. 2009;458:719.
Di Fiore F. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy. Br J Cancer. 2007;96(8):1166-9.
Warth A, Penzel R, Brandt R, Sers C, Fischer JR, Thomas M, et al. Optimized algorithm for Sanger sequencing-based EGFR mutation analyses in NSCLC biopsies. Virchows Arch. 2012;460(4):407-14.
McGinn S, Gut IG. DNA sequencing - spanning the generations. N Biotechnol. 2013;30(4):366-72.
Di Resta C, Ferrari M. Next generation sequencing: from research area to clinical practice. EJIFCC. 2018;29(3):215-20.
Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010;11(10):685-96.
Mardis ER. Next-generation sequencing platforms. Annu Rev Anal Chem (Palo Alto Calif). 2013;6:287-303.
Grada A. Next-generation sequencing: methodology and application. J Invest Dermatol. 2013;133(8):1-4.
Bernabe R, Hickson N, Wallace A, Blackhall FH. What do we need to make circulating tumour DNA (ctDNA) a routine diagnostic test in lung cancer? Eur J Cancer. 2017;81:66-73.
Beck TF, Mullikin JC, Biesecker LG. Systematic evaluation of sanger validation of next-generation sequencing variants. Clin Chem. 2016;62(4):647-54.
Werner SL, Graf RP, Landers M, Valenta DT, Schroeder M, Greene SB, et al. Analytical validation and capabilities of the epic CTC platform: enrichment-free circulating tumour cell detection and characterization. J Circ Biomark. 2015;4:3.
Germer S, Higuchi R. Homogeneous allele-specific PCR in SNP genotyping. Methods Mol Biol. 2003;212:197-214.
Maheswaran S, Sequist LV, Nagrath S, Ulkus L, Brannigan B, Collura CV, et al. Detection of mutations in EGFR in circulating lung-cancer cells. N Engl J Med. 2008;359(4):366-77.
Corless CL, Harrell P, Lacouture M, Bainbridge T, Le C, Gatter K, et al. Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia. J Mol Diagn. 2006;8(5):604-12.
Jarry A, Masson D, Cassagnau E, Parois S, Laboisse C, Denis MG. Real-time allele-specific amplification for sensitive detection of the BRAF mutation V600E. Mol Cell Probes. 2004;18(5):349-52.
Huang T, Zhuge J, Zhang WW. Sensitive detection of BRAF V600E mutation by Amplification Refractory Mutation System (ARMS)-PCR. Biomark Res. 2013;1(1):3.
Tamburro M, Ripabelli G. High Resolution Melting as a rapid, reliable, accurate and cost-effective emerging tool for genotyping pathogenic bacteria and enhancing molecular epidemiological surveillance: a comprehensive review of the literature. Ann Ig. 2017;29(4):293-316.
Wittwer CT. High-resolution DNA melting analysis: advancements and limitations. Hum Mutat. 2009;30(6):857-9.
Herbst RS. Role of novel targeted therapies in the clinic. Br J Cancer. 2005;92(1):S21-S7.
Sidransky D. Emerging molecular markers of cancer. Nat Rev Cancer. 2002;2(3):210-9.
Lim KT, Tan KY. Current research and treatment for gastrointestinal stromal tumors. World J Gastroenterol. 2017;23(27):4856-66.
Di Rocco A, De Angelis F, Ansuinelli M, Foa R, Martelli M. Is now the time for molecular driven therapy for diffuse large B-cell lymphoma? Expert Rev Hematol. 2017;10(9):761-74.
Nagini S. Breast cancer: current molecular therapeutic targets and new players. Anticancer Agents Med Chem. 2017;17(2):152-63.
Dienstmann R, Vermeulen L, Guinney J, Kopetz S, Tejpar S, Tabernero J. Consensus molecular subtypes and the evolution of precision medicine in colorectal cancer. Nat Rev Cancer. 2017;17(2):79-92.
Mazzarella L, Guida A, Curigliano G. Cetuximab for treating non-small cell lung cancer. Expert Opin Biol Ther. 2018;18(4):483-93.
Lee YT, Tan YJ, Oon CE. Molecular targeted therapy: Treating cancer with specificity. Eur J Pharmacol. 2018;834:188-96.
Salles G, Barrett M, Foa R, Maurer J, O'Brien S, Valente N, et al. Rituximab in B-Cell hematologic malignancies: a review of 20 years of clinical experience. Adv Ther. 2017;34(10):2232-73.
Mok CC. Current role of rituximab in systemic lupus erythematosus. Int J Rheum Dis. 2015;18(2):154-63.
Huxley N, Crathorne L, Varley-Campbell J, Tikhonova I, Snowsill T, Briscoe S, et al. The clinical effectiveness and cost-effectiveness of cetuximab (review of technology appraisal no. 176) and panitumumab (partial review of technology appraisal no. 240) for previously untreated metastatic colorectal cancer: a systematic review and economic evaluation. Health Technol Assess. 2017;21(38):1-294.
Singh D, Attri BK, Gill RK, Bariwal J. Review on EGFR inhibitors: critical updates. Mini Rev Med Chem. 2016;16(14):1134-66.
Kazandjian D, Blumenthal GM, Yuan W, He K, Keegan P, Pazdur R. FDA approval of gefitinib for the treatment of patients with metastatic EGFR mutation-positive non-small cell lung cancer. Clin Cancer Res. 2016;22(6):1307-12.
Steins M, Thomas M, Geissler M. Erlotinib. Recent Results Cancer Res. 2018;211:1-17.
Cohen MH, Johnson JR, Chen YF, Sridhara R, Pazdur R. FDA drug approval summary: erlotinib (Tarceva) tablets. Oncologist. 2005;10(7):461-6.
Keating GM. Bevacizumab: a review of its use in advanced cancer. Drugs. 2014;74(16):1891-925.
Rong B, Yang S, Li W, Zhang W, Ming Z. Systematic review and meta-analysis of Endostar (rh-endostatin) combined with chemotherapy versus chemotherapy alone for treating advanced non-small cell lung cancer. World J Surg Oncol. 2012;10:170.
Copyright (c) 2019 Yamin Wang, Zhong Chen
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors retain full copyright to their individual works.
In accordance with the Budapest Open Access Initiative, articles published in STEMedicine are freely available "on the public internet, permitting any users to read, download, copy, distribute, print, search, or link to the full texts of these articles, crawl them for indexing, pass them as data to software, or use them for any other lawful purpose, without financial, legal, or technical barriers other than those inseparable from gaining access to the internet itself. The only constraint on reproduction and distribution, and the only role for copyright in this domain, should be to give authors control over the integrity of their work and the right to be properly acknowledged and cited."
Except where otherwise noted, all content on this website is licensed under a Creative Commons Attribution 4.0 License. This license allows for commercial and non-commercial redistribution as well as modifications of the work as long as attribution is given to the authors and STEMedicine as the original publication source, and a link to the article on the STEMedicine website is provided.