Tracking the history of circulating nucleic acids for cancer research in Brazil: A systematic review
DOI:
https://doi.org/10.12957/bjhbs.2021.63966Keywords:
Brazil, Cancer, Circulating nucleic acids, cfDNA, cfRNA, Liquid biopsy.Abstract
Introduction: Circulating nucleic acids can be obtained
by minimally invasive procedures based on liquid biopsy,
which has emerged as a promising area of investigation for
screening and monitoring cancer treatment. Currently, tests
based on circulating nucleic acid analysis, specifically cellfree
DNA (cfDNA), are commercially available for diagnostic
and prognostic investigation of a number of neoplasms. Objective:
To describe the research on circulating nucleic acid
markers for cancer prospecting in Brazil, since this area has
advanced rapidly in recent years. Methods: In this systematic
review, we surveyed Brazilian publications in cancer research
focused on cfDNA and cfRNA present in different fluids. Both
MEDLINE-PUBMED and EMBASE databases were inspected
using terms such as “circulating nucleic acids”, “cancer”, and
“Brazil”. Results: The search returned 326 articles, in which
28 Brazilian translational studies were eligible. Different
methodologies were reported for different types of cancer,
in which cfDNA from plasma was the most investigated
biological material. Molecular investigations included quantification,
somatic mutation, RNA expression, genotyping,
microsatellites, blood protein interaction, and methylation.
Discrepancies in the regional distribution of the studies were
also observed. Conclusion: Studies on circulating nucleic acid
markers have advanced significantly in the oncology field,
but many others are needed to better address the clinical
practice in Brazil.
Downloads
References
Shyr D, Liu Q. Next generation sequencing in cancer research
and clinical application. Biol Proced Online. 2013;15(1):4. DOI:
1186/1480-9222-15-4
Castro-Giner F, Gkountela S, Donato C, et al. Cancer
Diagnosis Using a Liquid Biopsy: Challenges and
Expectations. Diagnostics (Basel). 2018;8(2):31. DOI: 10.3390/
diagnostics8020031
Bronkhorst AJ, Ungerer V, Holdenrieder S. The emerging role of
cell-free DNA as a molecular marker for cancer management.
Biomol Detect Quantif. 2019;17:100087. DOI: 10.1016/j.
bdq.2019.100087
Delmonico L, Alves G, Bines J. Cell free DNA biology and its
involvement in breast carcinogenesis. Adv Clin Chem, 1st ed.,
Elsevier, 2020;p.171-223. DOI: 10.1016/bs.acc.2019.12.006
Kawamura MT, Paschoal ME, Carvalho MDC. In vitro
interaction of serum protein with circulating DNA of lung cancer
patient. Int J Mol Med. 1999;4(2):187-190. DOI: 10.3892/
ijmm.4.2.187
Kawamura MT, Paschoal ME, Carvalho MDC. Profile of
Proteins Complexed with Circulating DNA of a Lung Cancer
Patient. Ann N Y Acad Sci. 2006;906:51-54. DOI: 10.1111/
j.1749-6632.2000.tb06590.x
Fernández-Lázaro D, Hernández JLG, García AC, et al. Liquid
Biopsy as Novel Tool in Precision Medicine: Origins, Properties,
Identification and Clinical Perspective of Cancer’s Biomarkers.
Diagnostics. 2020;10:215. DOI: 10.3390/diagnostics10040215
Alves G, Kawamura MT, Nascimento P, et al. DNA release by
line-1 (L1) retrotransposon. Could it be possible? Ann N Y
Acad Sci. 2000;906:129-133. DOI: 10.1111/j.1749-6632.2000.
tb06602.x
Machado ASC, Robaina MCS, Rezende LMM, et al. Circulating
cell-free and Epstein-Barr virus DNA in pediatric B-non-
Hodgkin lymphomas. Leuk Lymphoma.2010;51(6):1020-1027.
DOI: 10.3109/10428191003746331
Moreno R, Delgado PO, Coelho PG, et al. Lack of reliability
of nanotechnology in the of free plasma DNA in samples of
patients with prostate cancer. Int Arch Med. 2013;6(1):2. DOI:
1186/1755-7682-6-2
Delgado PO, Alves BCA, Gehrke FS, et al. Characterization of
cell-free circulating DNA in plasma in patients with prostate
cancer. Tumour Biol. 2013;34(2):983-6. DOI: 10.1007/s13277-
-0634-6
Wroclawski ML, Serpa-Neto A, Fonseca FLA, et al. Cell-free
plasma DNA as biochemical biomarker for the diagnosis
and follow-up of prostate cancer patients. Tumour Biol.
;34(5):2921-2927. DOI: 10.1007/s13277-013-0854-4
Filho BFS, Gurgel APAD, Neto MAFLN, et al. Circulating
cell-free DNA in serum as a biomarker of colorectal
cancer. J Clin Pathol. 2013;66(9):775-778. DOI: 10.1136/
jclinpath-2013-201521
Almeida EFP, Abdalla TE, Arrym TP, et al. Plasma and urine
DNA levels are related to microscopic hematuria in patients
with bladder urothelial carcinoma. Clin Biochem. 2016;49(16-
:1274-1277. DOI: 10.1016/j.clinbiochem.2016.08.021
Faria G, Silva E, Fonseca C, et al. Circulating Cell-Free DNA
as a Prognostic and Molecular Marker for Patients with Brain
Tumors under Perillyl Alcohol-Based Therapy. Int J Mol Sci.
;19(6):1610. DOI: 10.3390/ijms19061610
Normando SRC, Delgado PO, Rodrigues AKSB, et al.
Circulating free plasma tumor DNA in patients with advanced
gastric cancer receiving systemic chemotherapy. BMC Clin
Pathol. 2018;18:12. DOI: 10.1186/s12907-018-0079-y
Alves SIPMN, Hallack ML, Perez MM, et al. Application of
the Z-scan technique for the detection of CFCDNA (cell-free
circulating DNA) and urine DNA (uDNA) in patients with bladder
cancer. Photodiagnosis Photodyn Ther. 2019;26:131-133. DOI:
1016/j.pdpdt.2019.02.022
Alves MC, Fonseca FLA, Yamada AMTD, et al.
Increased circulating tumor DNA as a noninvasive
biomarker of early treatment response in patients
with metastatic ovarian carcinoma: A pilot study.
Tumour Biol. 2020;42(5):1010428320919198. DOI:
1177/1010428320919198
Hyun MH, Sung JS, Kang EJ, et al. Quantification of circulating
cell-free DNA to predict patient survival in non-small-cell lung
cancer. Oncotarget. 2017;8(55):94417–94430. DOI: 10.18632/
oncotarget.21769
Meddeb R, Dache ZAA, Thezenas S, et al. Quantifying
circulating cell-free DNA in humans. Sci Rep. 2019;9(1):5220.
DOI: 10.1038/s41598-019-41593-4
Carpinetti P, Donnard E, Bettoni F, et al. The use of
personalized biomarkers and liquid biopsies to monitor
treatment response and disease recurrence in locally advanced
rectal cancer after neoadjuvant chemoradiation. Oncotarget.
;6(35):38360–38371. DOI: 10.18632/oncotarget.5256
Ferreira EN, Barros BDF, Souza JE, et al. A genomic case
study of desmoplastic small round cell tumor: comprehensive
analysis reveals insights into potential therapeutic targets and
development of a monitoring tool for a rare and aggressive
disease. Hum Genomics. 2016;10(1):36. DOI: 10.1186/s40246-
-0092-0
Knebel FH, Bettoni F, Shimada AK, et al. Sequential liquid
biopsies reveal dynamic alterations of EGFR driver mutations
and indicate EGFR amplification as a new mechanism
of resistance to osimertinib in NSCLC. Lung Cancer.
;108:238-241. DOI: 10.1016/j.lungcan.2017.04.004
Barros BDF, Kupper BEC, Junior SA, et al. Mutation Detection
in Tumor-Derived Cell Free DNA Anticipates Progression in
a Patient With Metastatic Colorectal Cancer. Front Oncol.
;8:306. DOI: 10.3389/fonc.2018.00306
Delmonico L, Costa MASM, Fournier MV, et al. Mutation
profiling in the PIK3CA, TP53, and CDKN2A genes in circulating
free DNA and impalpable breast lesions. Ann Diagn Pathol.
;39:30-35. DOI: 10.1016/j.anndiagpath.2018.12.008
Knebel FH, Bettoni F, Fonseca LG, et al. Circulating Tumor
DNA Detection in the Management of Anti-EGFR Therapy for
Advanced Colorectal Cancer. Front Oncol. 2019;9:170. DOI:
3389/fonc.2019.00170
Pizzi MP, Bartelli TF, Pelosof AG, et al. Identification of DNA
mutations in gastric washes from gastric adenocarcinoma
patients: Possible implications for liquid biopsies and patient
follow-up. Int J Cancer. 2019;145(4):1090-1098. DOI: 10.1002/
ijc.32217
Miguez ACK, Barros BDF, Souza JES, et al. Assessment
of somatic mutations in urine and plasma of Wilms tumor
patients. Cancer Med. 2020;9(16):5948-5959. DOI: 10.1002/
cam4.3236
Boland CR, Thibodeau SN, Hamilton SR, 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(22):5248-5257.
Nunes DN, Kowalski LP, Simpson AJ. Circulating tumor-derived DNA may permit the early diagnosis of head and neck squamous cell carcinomas. Int J Cancer. 2001;92(2):214-219. DOI: 10.1002/1097-0215(200102)9999:9999<::aid-ijc1176>3.0.co;2-c
Pinto JLF, Fonseca FLA, Marsicano SR, et al. Systemic chemotherapy-induced microsatellite instability in the mononuclear cell fraction of women with breast cancer can be reproduced in vitro and abrogated by amifostine. J Pharm Pharmacol. 2010;62(7):931-934. DOI: 10.1211/jpp.62.07.0015
Chantre-Justino M, Alves G. Genetic Polymorphism of Glutathione S-Transferase. In: Pál Perjési. (Org.). Glutathione Biosynthesis, Functions and Biological Implications. 1ed. New York: Nova Science Publishers, 2019; p. 189-222. ISBN: 978-1-53614-740-7
Cabral REC, Caldeira-de-Araujo A, Cabral-Neto JB, et al. Analysis of GSTM1 and GSTT1 polymorphisms in circulating plasma DNA of lung cancer patients. Mol Cell Biochem. 2010;338(1-2):263-269. DOI: 10.1007/s11010-009-0360-6
Silva MM, Fonseca CO, Moura-Neto R, et al. Influence of GSTM1 and GSTT1 polymorphisms on the survival rate of patients with malignant glioma under perillyl alcohol-based therapy. Genet Mol Res. 2013;12(2):1621-1630. DOI: 10.4238/2013.May.14.2
Pezuk JA, Miller TLA, Bevilacqua JLB, et al. Measuring plasma levels of three microRNAs can improve the accuracy for identification of malignant breast lesions in women with BI-RADS 4 mammography. Oncotarget. 2017;8(48):83940-83948. DOI: 10.18632/oncotarget.20806
Souza MF, Kuasne H, Barros-Filho MC, et al. Circulating mRNAs and miRNAs as candidate markers for the diagnosis and prognosis of prostate cancer. PLoS One. 2017;12(9):e0184094. DOI: 10.1371/journal.pone.0184094
Llinàs-Arias P, Esteller M. Epigenetic inactivation of tumour suppressor coding and non-coding genes in human cancer: an update. Open Biol. 2017;7(9):170152. DOI: 10.1098/rsob.170152
Delmonico L, Costa MASM, Gomes RJ, et al. Methylation profiling in promoter sequences of ATM and CDKN2A (p14ARF/p16INK4a) genes in blood and cfDNA from women with impalpable breast lesions. Oncol Lett. 2020;19(4):3003-3010. DOI: 10.3892/ol.2020.11382
Cui M, Wang H, Yao X, et al. Circulating MicroRNAs in Cancer: Potential and Challenge. Front Genet. 2019;10:626. DOI: 10.3389/fgene.2019.00626
Downloads
Published
How to Cite
Issue
Section
License
After the final approval, authors must send the copyright transfer agreement signed by the first author representing each additional author. In this agreement must be stated any conflicts of interest.
Brazilian Journal of Health and Biomedical Sciences de http://bjhbs.hupe.uerj.br/ is licensed under a License Creative Commons - Attribution-NonCommercial 4.0 International.