Abstract
In 2018 alone, colorectal cancer (CRC) accounted for 10.2% among all cancer cases. It is known to be a consequence of accumulated alterations in the genome. Several studies on genetics have improved our understanding of CRC. While genetics play its role as the first code of genome, role of epigenetics in CRC as the second code of genome has been highlighted in the last decades. We focus on the essential factors like DNA methylation drivers-writer, reader, eraser and non-coding RNA, miRNA and long non-coding RNAs associated with CRC.
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Abbreviations
- CRC:
-
Colorectal cancer
- LncRNA:
-
Long non-coding RNA
- MBD1:
-
Methyl-CpG binding domain protein 1
- miRNA:
-
MicroRNA
- ncRNAs:
-
Non-coding RNAs
- PVT1:
-
Plasmacytoma variant translocation 1
- TET:
-
Ten-eleven translocation methylcytosine
References
Bray F, et al. 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.
Arnold M, et al. Global patterns and trends in colorectal cancer incidence and mortality. Gut. 2017;66(4):683–91.
Puccini A, et al. Colorectal cancer: epigenetic alterations and their clinical implications. Biochim Biophys Acta Rev Cancer. 2017;1868(2):439–48.
Shao WH, et al. A hereditable mutation of MSH2 gene associated with lynch syndrome in a five generation Chinese family. Cancer Manag Res. 2020;12:1469–82.
Weinhold N, et al. Genome-wide analysis of noncoding regulatory mutations in cancer. Nat Genet. 2014;46(11):1160–5.
Consortium EP. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57–74.
Bird A. DNA methylation patterns and epigenetic memory. Genes Dev. 2002;16(1):6–21.
Feinberg AP, Vogelstein B. Hypomethylation distinguishes genes of some human cancers from their normal counterparts. Nature. 1983;301(5895):89–92.
Mahmood N, Rabbani SA. DNA methylation readers and cancer: mechanistic and therapeutic applications. Front Oncol. 2019;9:489.
Meehan RR, et al. Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs. Cell. 1989;58(3):499–507.
Hudson NO, Buck-Koehntop BA. Zinc finger readers of methylated DNA. Molecules. 2018;23(10):2555.
Prokhortchouk A, et al. The p120 catenin partner Kaiso is a DNA methylation-dependent transcriptional repressor. Genes Dev. 2001;15(13):1613–8.
He YF, et al. Tet-mediated formation of 5-carboxylcytosine and its excision by TDG in mammalian DNA. Science. 2011;333(6047):1303–7.
Otani J, et al. Cell cycle-dependent turnover of 5-hydroxymethyl cytosine in mouse embryonic stem cells. PLoS One. 2013;8(12):e82961.
Hashimoto H, et al. Recognition and potential mechanisms for replication and erasure of cytosine hydroxymethylation. Nucleic Acids Res. 2012;40(11):4841–9.
Williams K, et al. TET1 and hydroxymethylcytosine in transcription and DNA methylation fidelity. Nature. 2011;473(7347):343–8.
Tse JWT, et al. Aberrant DNA methylation in colorectal cancer: what should we target? Trends Cancer. 2017;3(10):698–712.
Kanai Y, et al. Mutation of the DNA methyltransferase (DNMT) 1 gene in human colorectal cancers. Cancer Lett. 2003;192(1):75–82.
Wong JJ, Hawkins NJ, Ward RL. Colorectal cancer: a model for epigenetic tumorigenesis. Gut. 2007;56(1):140–8.
Subramaniam D, et al. DNA methyltransferases: a novel target for prevention and therapy. Front Oncol. 2014;4:80.
MacLeod AR, Szyf M. Expression of antisense to DNA methyltransferase mRNA induces DNA demethylation and inhibits tumorigenesis. J Biol Chem. 1995;270(14):8037–43.
Rountree MR, et al. DNA methylation, chromatin inheritance, and cancer. Oncogene. 2001;20(24):3156–65.
Qi L, Ding Y. Screening of tumor suppressor genes in metastatic colorectal cancer. Biomed Res Int. 2017;2017:2769140.
Park HY, et al. Differential promoter methylation may be a key molecular mechanism in regulating BubR1 expression in cancer cells. Exp Mol Med. 2007;39(2):195–204.
Sansom OJ, et al. Deficiency of Mbd2 suppresses intestinal tumorigenesis. Nat Genet. 2003;34(2):145–7.
Pancione M, et al. Epigenetic silencing of peroxisome proliferator-activated receptor gamma is a biomarker for colorectal cancer progression and adverse patients’ outcome. PLoS One. 2010;5(12):e14229.
De La Rosa-Velazquez IA, et al. Epigenetic regulation of the human retinoblastoma tumor suppressor gene promoter by CTCF. Cancer Res. 2007;67(6):2577–85.
Lopes EC, et al. Kaiso contributes to DNA methylation-dependent silencing of tumor suppressor genes in colon cancer cell lines. Cancer Res. 2008;68(18):7258–63.
Riccio A, et al. The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet. 1999;23(3):266–8.
Huang J, et al. Enhanced expression of SETDB1 possesses prognostic value and promotes cell proliferation, migration and invasion in nasopharyngeal carcinoma. Oncol Rep. 2018;40(2):1017–25.
Chen K, et al. Histone Methyltransferase SETDB1 promotes the progression of colorectal cancer by inhibiting the expression of TP53. J Cancer. 2017;8(16):3318–30.
Rawluszko-Wieczorek AA, et al. Clinical significance of DNA methylation mRNA levels of TET family members in colorectal cancer. J Cancer Res Clin Oncol. 2015;141(8):1379–92.
Seshagiri S, et al. Recurrent R-spondin fusions in colon cancer. Nature. 2012;488(7413):660–4.
Ichimura N, et al. Aberrant TET1 methylation closely associated with CpG Island Methylator phenotype in colorectal cancer. Cancer Prev Res (Phila). 2015;8(8):702–11.
Noreen F, et al. DNA methylation instability by BRAF-mediated TET silencing and lifestyle-exposure divides colon cancer pathways. Clin Epigenetics. 2019;11(1):196.
Huang Y, et al. Loss of nuclear localization of TET2 in colorectal cancer. Clin Epigenetics. 2016;8:9.
Djebali S, et al. Landscape of transcription in human cells. Nature. 2012;489(7414):101–8.
Chen H, Xu Z, Liu D. Small non-coding RNA and colorectal cancer. J Cell Mol Med. 2019;23(5):3050–7.
Michael MZ, et al. Reduced accumulation of specific microRNAs in colorectal neoplasia. Mol Cancer Res. 2003;1(12):882–91.
Yong FL, Law CW, Wang CW. Potentiality of a triple microRNA classifier: miR-193a-3p, miR-23a and miR-338-5p for early detection of colorectal cancer. BMC Cancer. 2013;13:280.
Volinia S, et al. A microRNA expression signature of human solid tumors defines cancer gene targets. Proc Natl Acad Sci U S A. 2006;103(7):2257–61.
Asangani IA, et al. MicroRNA-21 (miR-21) post-transcriptionally downregulates tumor suppressor Pdcd4 and stimulates invasion, intravasation and metastasis in colorectal cancer. Oncogene. 2008;27(15):2128–36.
Ragusa M, et al. Non-coding landscapes of colorectal cancer. World J Gastroenterol. 2015;21(41):11709–39.
Koga Y, et al. MicroRNA expression profiling of exfoliated colonocytes isolated from feces for colorectal cancer screening. Cancer Prev Res (Phila). 2010;3(11):1435–42.
Wang CJ, et al. Clinicopathological significance of microRNA-31, −143 and −145 expression in colorectal cancer. Dis Markers. 2009;26(1):27–34.
Tazawa H, et al. Tumor-suppressive miR-34a induces senescence-like growth arrest through modulation of the E2F pathway in human colon cancer cells. Proc Natl Acad Sci U S A. 2007;104(39):15472–7.
Iliou MS, et al. Impaired DICER1 function promotes stemness and metastasis in colon cancer. Oncogene. 2014;33(30):4003–15.
O’Brien SJ, et al. The role of the miR-200 family in epithelial-mesenchymal transition in colorectal cancer: a systematic review. Int J Cancer. 2018;142(12):2501–11.
Korpal M, et al. Direct targeting of Sec23a by miR-200s influences cancer cell secretome and promotes metastatic colonization. Nat Med. 2011;17(9):1101–8.
Wang KC, Chang HY. Molecular mechanisms of long noncoding RNAs. Mol Cell. 2011;43(6):904–14.
Xu MD, Qi P, Du X. Long non-coding RNAs in colorectal cancer: implications for pathogenesis and clinical application. Mod Pathol. 2014;27(10):1310–20.
Ji P, et al. MALAT-1, a novel noncoding RNA, and thymosin beta4 predict metastasis and survival in early-stage non-small cell lung cancer. Oncogene. 2003;22(39):8031–41.
Xu C, et al. MALAT-1: a long non-coding RNA and its important 3′ end functional motif in colorectal cancer metastasis. Int J Oncol. 2011;39(1):169–75.
Davies H, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949–54.
Silva-Fisher JM, et al. Long non-coding RNA RAMS11 promotes metastatic colorectal cancer progression. Nat Commun. 2020;11(1):2156.
Di W, et al. Long noncoding RNA SNHG14 facilitates colorectal cancer metastasis through targeting EZH2-regulated EPHA7. Cell Death Dis. 2019;10(7):514.
Guo Q, et al. BRAF-activated long non-coding RNA contributes to colorectal cancer migration by inducing epithelial-mesenchymal transition. Oncol Lett. 2014;8(2):869–75.
Ling H, et al. CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. Genome Res. 2013;23(9):1446–61.
Nissan A, et al. Colon cancer associated transcript-1: a novel RNA expressed in malignant and pre-malignant human tissues. Int J Cancer. 2012;130(7):1598–606.
Zuo S, et al. Long non-coding RNA MEG3 activated by vitamin D suppresses glycolysis in colorectal cancer via promoting c-Myc degradation. Front Oncol. 2020;10:274.
Wu H, et al. lncRNA PVT1 promotes tumorigenesis of colorectal cancer by stabilizing miR-16-5p and interacting with the VEGFA/VEGFR1/AKT Axis. Mol Ther Nucleic Acids. 2020;20:438–50.
Takahashi Y, et al. Amplification of PVT-1 is involved in poor prognosis via apoptosis inhibition in colorectal cancers. Br J Cancer. 2014;110(1):164–71.
Tseng YY, et al. PVT1 dependence in cancer with MYC copy-number increase. Nature. 2014;512(7512):82–6.
Ogunwobi OO, Mahmood F, Akingboye A. Biomarkers in colorectal cancer: current research and future prospects. Int J Mol Sci. 2020;21(15):5311.
Shuwen H, et al. Competitive endogenous RNA in colorectal cancer: a systematic review. Gene. 2018;645:157–62.
Yu X, et al. Long intergenic non-protein-coding RNA 1567 (LINC01567) acts as a “sponge” against microRNA-93 in regulating the proliferation and tumorigenesis of human colon cancer stem cells. BMC Cancer. 2017;17(1):716.
Wu Q, et al. LncRNA MALAT1 induces colon cancer development by regulating miR-129-5p/HMGB1 axis. J Cell Physiol. 2018;233(9):6750–7.
Zhang R, et al. Long noncoding RNA plasmacytoma variant translocation 1 (PVT1) promotes colon cancer progression via endogenous sponging miR-26b. Med Sci Monit. 2018;24:8685–92.
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Miao, B., Gupta, S., Mathur, M., Suravajhala, P., Bandapalli, O.R. (2021). Role of Epigenetics in Colorectal Cancer. In: Nagaraju, G.P., Shukla, D., Vishvakarma, N.K. (eds) Colon Cancer Diagnosis and Therapy. Springer, Cham. https://doi.org/10.1007/978-3-030-63369-1_6
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DOI: https://doi.org/10.1007/978-3-030-63369-1_6
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