Extracellular Nucleic Acids in the Diagnosis and Progression of Colorectal Cancer

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2022 Aug 12

PMID 35954375

Authors

Jakub Styk

Gergely Buglyo

Ondrej Pos

Adam Csok

Beata Soltesz

Peter Lukasz

Vanda Repiska

Balint Nagy

Tomas Szemes

Affiliations

Soon will be listed here.

Abstract

Colorectal cancer (CRC) is the 3rd most common malignant neoplasm worldwide, with more than two million new cases diagnosed yearly. Despite increasing efforts in screening, many cases are still diagnosed at a late stage, when mortality is high. This paper briefly reviews known genetic causes of CRC (distinguishing between sporadic and familial forms) and discusses potential and confirmed nucleic acid biomarkers obtainable from liquid biopsies, classified by their molecular features, focusing on clinical relevance. We comment on advantageous aspects such as better patient compliance due to blood sampling being minimally invasive, the possibility to monitor mutation characteristics of sporadic and hereditary CRC in a disease showing genetic heterogeneity, and using up- or down-regulated circulating RNA markers to reveal metastasis or disease recurrence. Current difficulties and thoughts on some possible future directions are also discussed. We explore current evidence in the field pointing towards the introduction of personalized CRC management.

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References

Xu Y, Qiu A, Peng F, Tan X, Wang J, Gong X . Exosomal transfer of circular RNA FBXW7 ameliorates the chemoresistance to oxaliplatin in colorectal cancer by sponging miR-18b-5p. Neoplasma. 2020; 68(1):108-118. DOI: 10.4149/neo_2020_200417N414. View

Wasserkort R, Kalmar A, Valcz G, Spisak S, Krispin M, Toth K . Aberrant septin 9 DNA methylation in colorectal cancer is restricted to a single CpG island. BMC Cancer. 2013; 13:398. PMC: 3837632. DOI: 10.1186/1471-2407-13-398. View

Jian X, He H, Zhu J, Zhang Q, Zheng Z, Liang X . Hsa_circ_001680 affects the proliferation and migration of CRC and mediates its chemoresistance by regulating BMI1 through miR-340. Mol Cancer. 2020; 19(1):20. PMC: 6993513. DOI: 10.1186/s12943-020-1134-8. View

Ren T, Liu C, Hou J, Shan F . CircDDX17 reduces 5-fluorouracil resistance and hinders tumorigenesis in colorectal cancer by regulating miR-31-5p/KANK1 axis. Eur Rev Med Pharmacol Sci. 2020; 24(4):1743-1754. DOI: 10.26355/eurrev_202002_20351. View

Wimmer K, Kratz C, Vasen H, Caron O, Colas C, Entz-Werle N . Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet. 2014; 51(6):355-65. DOI: 10.1136/jmedgenet-2014-102284. View

Abedini P, Fattahi A, Agah S, Talebi A, Beygi A, Amini S . Expression analysis of circulating plasma long noncoding RNAs in colorectal cancer: The relevance of lncRNAs ATB and CCAT1 as potential clinical hallmarks. J Cell Physiol. 2019; 234(12):22028-22033. DOI: 10.1002/jcp.28765. View

Quintana I, Mejias-Luque R, Terradas M, Navarro M, Pinol V, Mur P . Evidence suggests that germline mutations are a rare cause of serrated polyposis. Gut. 2018; 67(12):2230-2232. DOI: 10.1136/gutjnl-2017-315733. View

Ahlquist D, Taylor W, Mahoney D, Zou H, Domanico M, Thibodeau S . The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia. Clin Gastroenterol Hepatol. 2011; 10(3):272-7.e1. PMC: 3980432. DOI: 10.1016/j.cgh.2011.10.008. View

Zhao W, Song M, Zhang J, Kuerban M, Wang H . Combined identification of long non-coding RNA CCAT1 and HOTAIR in serum as an effective screening for colorectal carcinoma. Int J Clin Exp Pathol. 2016; 8(11):14131-40. PMC: 4713512. View

10.

Zhang Y, Li M, Ding Y, Fan Z, Zhang J, Zhang H . Serum MicroRNA profile in patients with colon adenomas or cancer. BMC Med Genomics. 2017; 10(1):23. PMC: 5399348. DOI: 10.1186/s12920-017-0260-7. View

11.

Buglyo G, Styk J, Pos O, Csok A, Repiska V, Soltesz B . Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome. Int J Mol Sci. 2022; 23(8). PMC: 9029375. DOI: 10.3390/ijms23084284. View

12.

Flamini E, Mercatali L, Nanni O, Calistri D, Nunziatini R, Zoli W . Free DNA and carcinoembryonic antigen serum levels: an important combination for diagnosis of colorectal cancer. Clin Cancer Res. 2006; 12(23):6985-8. DOI: 10.1158/1078-0432.CCR-06-1931. View

13.

Kang E, Jung S, Nam S, Park Y, Seo S, Park K . Tissue miR-200c-3p and circulating miR-1290 as potential prognostic biomarkers for colorectal cancer. Sci Rep. 2022; 12(1):2295. PMC: 8831555. DOI: 10.1038/s41598-022-06192-w. View

14.

Lin O . Colorectal cancer screening in patients at moderately increased risk due to family history. World J Gastrointest Oncol. 2012; 4(6):125-30. PMC: 3382658. DOI: 10.4251/wjgo.v4.i6.125. View

15.

Dal Buono A, Gaiani F, Poliani L, Laghi L . Juvenile polyposis syndrome: An overview. Best Pract Res Clin Gastroenterol. 2022; 58-59:101799. DOI: 10.1016/j.bpg.2022.101799. View

16.

Wang X, Zhang H, Yang H, Bai M, Ning T, Deng T . Exosome-delivered circRNA promotes glycolysis to induce chemoresistance through the miR-122-PKM2 axis in colorectal cancer. Mol Oncol. 2020; 14(3):539-555. PMC: 7053238. DOI: 10.1002/1878-0261.12629. View

17.

Sazanov A, Kiselyova E, Zakharenko A, Romanov M, Zaraysky M . Plasma and saliva miR-21 expression in colorectal cancer patients. J Appl Genet. 2016; 58(2):231-237. DOI: 10.1007/s13353-016-0379-9. View

18.

Ye D, Wang S, Huang Y, Chi P . A 3-circular RNA signature as a noninvasive biomarker for diagnosis of colorectal cancer. Cancer Cell Int. 2019; 19:276. PMC: 6829842. DOI: 10.1186/s12935-019-0995-7. View

19.

Taupin D, Lam W, Rangiah D, McCallum L, Whittle B, Zhang Y . A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. Hum Genome Var. 2016; 2:15013. PMC: 4785559. DOI: 10.1038/hgv.2015.13. View

20.

Liang Y, Shi J, He Q, Sun G, Gao L, Ye J . Hsa_circ_0026416 promotes proliferation and migration in colorectal cancer via miR-346/NFIB axis. Cancer Cell Int. 2020; 20:494. PMC: 7549246. DOI: 10.1186/s12935-020-01593-1. View