Gene promoter methylation and cancer: An umbrella review

Bouras, Emmanouil; Karakioulaki, Meropi; Βουγιούκας, Κωνσταντίνος; Aivaliotis, Michalis; Tzimagiorgis, Georgios; Chourdakis, Michael

doi:10.1016/j.gene.2019.06.023

Cited by 78 publications

(63 citation statements)

References 83 publications

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“…The recurrence risk for BWS is generally low in case of upd (11)pat and IC1 and IC2 epimutation. However, the cases with IC1 GOM and carrying IC1 deletion/SNV have a 50% risk of transmitting the disease via maternal transmission.…”

Section: Beckwith-wiedemann Syndrome and Silver-russell Syndromementioning

confidence: 99%

“…Although the former can be difficult to demonstrate, there is evidence that DNA methylation can be influenced by environmental factors, especially in germ cells and during early embryogenesis [10]. Modifications of the normal DNA methylation patterns have been commonly demonstrated in cancer, for example as hypermethylation of tumor suppressor gene promoters [11]. More recently, methylated CpGs that correlate with chronological age and with risk of mortality or developing multi-factorial diseases have been demonstrated [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

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DNA Methylation in the Diagnosis of Monogenic Diseases

Cerrato

Sparago

Ariani

et al. 2020

Genes

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DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.

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Section: Beckwith-wiedemann Syndrome and Silver-russell Syndromementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

DNA Methylation in the Diagnosis of Monogenic Diseases

Cerrato

Sparago

Ariani

et al. 2020

Genes

View full text Add to dashboard Cite

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“…Changes in DNA methylation is a form of epigenetic regulation of gene expression implicated in the development of disease [64]. Site-specific hypermethylation in the promoter regions of tumor suppressor genes silences their expression [65,66]. Global hypomethylation throughout the genome is a characteristic of several cancers and has been associated with a poor prognosis in patients [67].…”

Section: Induces Epigenetic Alterationsmentioning

confidence: 99%

Application of the Key Characteristics of Carcinogens to Per and Polyfluoroalkyl Substances

Temkin

Hocevar

Andrews

et al. 2020

IJERPH

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Per- and polyfluoroalkyl substances (PFAS) constitute a large class of environmentally persistent chemicals used in industrial and consumer products. Human exposure to PFAS is extensive, and PFAS contamination has been reported in drinking water and food supplies as well as in the serum of nearly all people. The most well-studied member of the PFAS class, perfluorooctanoic acid (PFOA), induces tumors in animal bioassays and has been associated with elevated risk of cancer in human populations. GenX, one of the PFOA replacement chemicals, induces tumors in animal bioassays as well. Using the Key Characteristics of Carcinogens framework for cancer hazard identification, we considered the existing epidemiological, toxicological and mechanistic data for 26 different PFAS. We found strong evidence that multiple PFAS induce oxidative stress, are immunosuppressive, and modulate receptor-mediated effects. We also found suggestive evidence indicating that some PFAS can induce epigenetic alterations and influence cell proliferation. Experimental data indicate that PFAS are not genotoxic and generally do not undergo metabolic activation. Data are currently insufficient to assess whether any PFAS promote chronic inflammation, cellular immortalization or alter DNA repair. While more research is needed to address data gaps, evidence exists that several PFAS exhibit one or more of the key characteristics of carcinogens.

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“…Different cancers have been associated with promoter hypermethylation in particular of tumor suppressor genes (Bouras et al, 2019). In addition, certain patterns of DNA methylation have been associated with drug resistance and the prediction of treatment efficacy (Wilting and Dannenberg, 2012).…”

Section: Inhibitors Of the Epigenetic Machinerymentioning

confidence: 99%

Transcription and Translation Inhibitors in Cancer Treatment

et al. 2020

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Transcription and translation are fundamental cellular processes that govern the protein production of cells. These processes are generally up regulated in cancer cells, to maintain the enhanced metabolism and proliferative state of these cells. As such cancerous cells can be susceptible to transcription and translation inhibitors. There are numerous druggable proteins involved in transcription and translation which make lucrative targets for cancer drug development. In addition to proteins, recent years have shown that the "undruggable" transcription factors and RNA molecules can also be targeted to hamper the transcription or translation in cancer. In this review, we summarize the properties and function of the transcription and translation inhibitors that have been tested and developed, focusing on the advances of the last 5 years. To complement this, we also discuss some of the recent advances in targeting oncogenes tightly controlling transcription including transcription factors and KRAS. In addition to natural and synthetic compounds, we review DNA and RNA based approaches to develop cancer drugs. Finally, we conclude with the outlook to the future of the development of transcription and translation inhibitors.

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Gene promoter methylation and cancer: An umbrella review

Cited by 78 publications

References 83 publications

DNA Methylation in the Diagnosis of Monogenic Diseases

DNA Methylation in the Diagnosis of Monogenic Diseases

Application of the Key Characteristics of Carcinogens to Per and Polyfluoroalkyl Substances

Transcription and Translation Inhibitors in Cancer Treatment

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