Cancer epigenetics and diagnostics

Section information

Section edited by Maria Berdasco, James Chim, Roderick Dashwood, Carmen Jerónimo, Eckart Meese, Arpad Patai and Ed Seto

The development of genome-wide techniques has rapidly improved the comprehensive knowledge of epigenetic alterations in cancer. Currently, a vast number of genes and their associated molecular pathways that show epigenetic differences between normal and tumoral cells have been identified, emphasizing the crucial role of epigenetic factors in cancer etiology and progression.  This section publishes original epigenetic research focused on epigenetic profiling and its clinical value for future diagnosis, prognosis and prediction of response to therapies (pharmacoepigenetics). 

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  1. Research

    Performance of a methylation specific real-time PCR assay as a triage test for HPV-positive women

    HPV DNA testing as a primary screening marker is being implemented in several countries. Due to the high HPV prevalence in the screening population, effective triage strategies for HPV-positive cases are requi...

    Martina Schmitz, Kristina Wunsch, Heike Hoyer, Cornelia Scheungraber, Ingo B. Runnebaum, Alfred Hansel and Matthias Dürst

    Clinical Epigenetics 2017 9:118

    Published on: 24 October 2017

  2. Research

    Silencing HOXD10 by promoter region hypermethylation activates ERK signaling in hepatocellular carcinoma

    Hepatocellular carcinoma is the fifth most common malignancy and the third leading cause of cancer-related death worldwide. Dysregulation of HomeoboxD10 (HOXD10) was found to suppress or promote cancer progres...

    Yulin Guo, Yaojun Peng, Dan Gao, Meiying Zhang, Weili Yang, Enqiang Linghu, James G. Herman, François Fuks, Guanglong Dong and Mingzhou Guo

    Clinical Epigenetics 2017 9:116

    Published on: 23 October 2017

  3. Research

    Methylation of ZNF331 is an independent prognostic marker of colorectal cancer and promotes colorectal cancer growth

    ZNF331 was reported to be a transcriptional repressor. Methylation of the promoter region of ZNF331 has been found frequently in human esophageal and gastric cancers. The function and methylation status of ZNF...

    Yuzhu Wang, Tao He, James G. Herman, Enqiang Linghu, Yunsheng Yang, François Fuks, Fuyou Zhou, Linjie Song and Mingzhou Guo

    Clinical Epigenetics 2017 9:115

    Published on: 18 October 2017

  4. Research

    MicroRNA-335-5p is a potential suppressor of metastasis and invasion in gastric cancer

    Multiple aberrant microRNA expression has been reported in gastric cancer. Among them, microRNA-335-5p (miR-335), a microRNA regulated by DNA methylation, has been reported to possess both tumor suppressor and...

    Alejandra Sandoval-Bórquez, Iva Polakovicova, Nicolás Carrasco-Véliz, Lorena Lobos-González, Ismael Riquelme, Gonzalo Carrasco-Avino, Carolina Bizama, Enrique Norero, Gareth I. Owen, Juan C. Roa and Alejandro H. Corvalán

    Clinical Epigenetics 2017 9:114

    Published on: 17 October 2017

  5. Research

    Identification of a key role of widespread epigenetic drift in Barrett’s esophagus and esophageal adenocarcinoma

    Recent studies have identified age-related changes in DNA methylation patterns in normal and cancer tissues in a process that is called epigenetic drift. However, the evolving patterns, functional consequences...

    E. Georg Luebeck, Kit Curtius, William D. Hazelton, Sean Maden, Ming Yu, Prashanthi N. Thota, Deepa T. Patil, Amitabh Chak, Joseph E. Willis and William M. Grady

    Clinical Epigenetics 2017 9:113

    Published on: 16 October 2017

  6. Research

    Promoter methylation inhibits expression of tumor suppressor KIBRA in human clear cell renal cell carcinoma

    KIBRA has been suggested as a key regulator of the Hippo signaling pathway, regulating organ size, cell contact inhibition, tissue regeneration as well as tumorigenesis and cystogenesis. We recently reported t...

    Katrin Schelleckes, Boris Schmitz, Giuliano Ciarimboli, Malte Lenders, Hermann J. Pavenstädt, Edwin Herrmann, Stefan-Martin Brand and Eva Brand

    Clinical Epigenetics 2017 9:109

    Published on: 6 October 2017

  7. Review

    Histone code and long non-coding RNAs (lncRNAs) aberrations in lung cancer: implications in the therapy response

    Respiratory diseases hold several genome, epigenome, and transcriptional aberrations as a cause of the accumulated damage promoted by, among others, environmental risk factors. Such aberrations can also come a...

    Abril Marcela Herrera-Solorio, Leonel Armas-López, Oscar Arrieta, Joaquín Zúñiga, Patricia Piña-Sánchez and Federico Ávila-Moreno

    Clinical Epigenetics 2017 9:98

    Published on: 8 September 2017

  8. Research

    Prognostic relevance of an epigenetic biomarker panel in sentinel lymph nodes from colon cancer patients

    Patients with early colorectal cancer (stages I–II) generally have a good prognosis, but a subgroup of 15–20% experiences relapse and eventually die of disease. Occult metastases have been suggested as a marke...

    Guro E. Lind, Marianne Guriby, Terje Ahlquist, Israr Hussain, Marine Jeanmougin, Kjetil Søreide, Hartwig Kørner, Ragnhild A. Lothe and Oddmund Nordgård

    Clinical Epigenetics 2017 9:97

    Published on: 5 September 2017

  9. Research

    Pyrosequencing quantified methylation level of miR-124 predicts shorter survival for patients with myelodysplastic syndrome

    Aberrant CpG island methylation has been increasingly recognized as a common event in myelodysplastic syndrome (MDS). To date, most of the previous studies of miR-124 in MDS have focused on epigenetic changes ...

    Hong Wang, Tong-Tong Zhang, Song Jin, Hong Liu, Xiang Zhang, Chang-Geng Ruan, De-Pei Wu, Yue Han and Xiao-Qin Wang

    Clinical Epigenetics 2017 9:91

    Published on: 30 August 2017

  10. Research

    Epigenetic response of imprinted domains during carcinogenesis

    Imprinted domains have been identified as targets for aberrant DNA methylation during carcinogenesis, but it remains unclear when these epigenetic alterations occur and how they contribute to tumor progression...

    Corey L. Bretz, Ingeborg M. Langohr and Joomyeong Kim

    Clinical Epigenetics 2017 9:90

    Published on: 25 August 2017

  11. Research

    Seven-CpG-based prognostic signature coupled with gene expression predicts survival of oral squamous cell carcinoma

    DNA methylation has started a recent revolution in genomics biology by identifying key biomarkers for multiple cancers, including oral squamous cell carcinoma (OSCC), the most common head and neck squamous cel...

    Sipeng Shen, Guanrong Wang, Qianwen Shi, Ruyang Zhang, Yang Zhao, Yongyue Wei, Feng Chen and David C. Christiani

    Clinical Epigenetics 2017 9:88

    Published on: 24 August 2017

  12. Research

    CpG location and methylation level are crucial factors for the early detection of oral squamous cell carcinoma in brushing samples using bisulfite sequencing of a 13-gene panel

    Oral squamous cell carcinoma (OSCC) is usually diagnosed at an advanced stage and is commonly preceded by oral premalignant lesions. The mortality rates have remained unchanged (50% within 5 years after diagno...

    Luca Morandi, Davide Gissi, Achille Tarsitano, Sofia Asioli, Andrea Gabusi, Claudio Marchetti, Lucio Montebugnoli and Maria Pia Foschini

    Clinical Epigenetics 2017 9:85

    Published on: 15 August 2017

  13. Research

    Tri-methylation of H3K79 is decreased in TGF-β1-induced epithelial-to-mesenchymal transition in lung cancer

    The epithelial-to-mesenchymal transition (EMT) enables epithelial cancer cells to acquire mesenchymal features and contributes to metastasis and resistance to treatment. This process involves epigenetic reprog...

    Emilie Evanno, Julie Godet, Nathalie Piccirilli, Joëlle Guilhot, Serge Milin, Jean Marc Gombert, Benoit Fouchaq and Joëlle Roche

    Clinical Epigenetics 2017 9:80

    Published on: 8 August 2017

  14. Research

    A long-range interactive DNA methylation marker panel for the promoters of HOXA9 and HOXA10 predicts survival in breast cancer patients

    Most DNA cancer methylation markers are based on the transcriptional regulation of the promoter-gene relationship. Recently, the importance of long-range interactions between distal CpGs and target genes has b...

    Seong-Min Park, Eun-Young Choi, Mingyun Bae, Jung Kyoon Choi and Youn-Jae Kim

    Clinical Epigenetics 2017 9:73

    Published on: 24 July 2017

  15. Research

    MicroRNA profiling of ovarian granulosa cell tumours reveals novel diagnostic and prognostic markers

    The aim of this study was to explore the clinical utility of microRNAs (miRNAs) as improved markers of ovarian granulosa cell tumours (GCTs) for cancer diagnosis and prognosis prediction. Current histopatholog...

    Wei-Tzu Cheng, Roseanne Rosario, Anita Muthukaruppan, Michelle K Wilson, Kathryn Payne, Peter C. Fong, Andrew N. Shelling and Cherie Blenkiron

    Clinical Epigenetics 2017 9:72

    Published on: 21 July 2017

  16. Methodology

    Single-molecule quantification of 5-hydroxymethylcytosine for diagnosis of blood and colon cancers

    The DNA modification 5-hydroxymethylcytosine (5hmC) is now referred to as the sixth base of DNA with evidence of tissue-specific patterns and correlation with gene regulation and expression. This epigenetic ma...

    Noa Gilat, Tzlil Tabachnik, Amit Shwartz, Tamar Shahal, Dmitry Torchinsky, Yael Michaeli, Gil Nifker, Shahar Zirkin and Yuval Ebenstein

    Clinical Epigenetics 2017 9:70

    Published on: 14 July 2017

  17. Methodology

    PAT-H-MS coupled with laser microdissection to study histone post-translational modifications in selected cell populations from pathology samples

    Aberrations in histone post-translational modifications (hPTMs) have been linked with various pathologies, including cancer, and could not only represent useful biomarkers but also suggest possible targetable ...

    Roberta Noberini, Rémi Longuespée, Cristina Richichi, Giancarlo Pruneri, Mark Kriegsmann, Giuliana Pelicci and Tiziana Bonaldi

    Clinical Epigenetics 2017 9:69

    Published on: 11 July 2017

  18. Research

    Epigenetic silencing of SALL3 is an independent predictor of poor survival in head and neck cancer

    This study examined Sal-like protein (SALL)3 methylation profiles of head and neck cancer (HNSCC) patients at diagnosis and follow-up and evaluated their prognostic significance and value as a biomarker. SALL3 ex...

    Kiyoshi Misawa, Daiki Mochizuki, Atsushi Imai, Yuki Misawa, Shiori Endo, Masato Mima, Hideya Kawasaki, Thomas E. Carey and Takeharu Kanazawa

    Clinical Epigenetics 2017 9:64

    Published on: 12 June 2017

  19. Research

    ZAR1 is a novel epigenetically inactivated tumour suppressor in lung cancer

    Lung cancer is the leading cause of cancer-related deaths with 1.8 million new cases each year and poor 5-year prognosis. Promoter hypermethylation of tumour suppressors leads to their inactivation and thereby...

    Antje M. Richter, Steffen Kiehl, Nicole Köger, Janina Breuer, Thorsten Stiewe and Reinhard H. Dammann

    Clinical Epigenetics 2017 9:60

    Published on: 2 June 2017

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