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

    Analysis of the DNA methylation level of cancer-related genes in colorectal cancer and the surrounding normal mucosa

    Two molecular pathways promote the development of colorectal cancer (CRC). One is termed “microsatellite stable” (MSS) whereas the other is characterized by “microsatellite instability” (MSI or MIN). In additi...

    Tamotsu Sugai, Masakazu Yoshida, Makoto Eizuka, Noriyuki Uesugii, Wataru Habano, Kouki Otsuka, Akira Sasaki, Eiichiro Yamamoto, Takayuki Matsumoto and Hiromu Suzuki

    Clinical Epigenetics 2017 9:55

    Published on: 18 May 2017

  2. Research

    Circulating nucleosomes as new blood-based biomarkers for detection of colorectal cancer

    Colonoscopy is currently widely accepted as the gold standard for detection of colorectal cancer (CRC) providing detection of up to 95% of pre-cancerous lesions during the procedure. However, certain limitatio...

    Jean-François Rahier, Anne Druez, Laurence Faugeras, Jean-Paul Martinet, Myriam Géhénot, Eléonore Josseaux, Marielle Herzog, Jake Micallef, Fabienne George, Monique Delos, Thierry De Ronde, Abdenor Badaoui and Lionel D’Hondt

    Clinical Epigenetics 2017 9:53

    Published on: 15 May 2017

  3. Letter to the Editor

    Epigenetic modifications of the immune-checkpoint genes CTLA4 and PDCD1 in non-small cell lung cancer results in increased expression

    Targeting checkpoint inhibitors using monoclonal antibodies results in significantly better outcome of cancer patients compared to conventional chemotherapy. However, the current companion diagnostics to predi...

    Sebastian Marwitz, Swetlana Scheufele, Sven Perner, Martin Reck, Ole Ammerpohl and Torsten Goldmann

    Clinical Epigenetics 2017 9:51

    Published on: 11 May 2017

  4. Research

    The CpG island methylator phenotype is concordant between primary colorectal carcinoma and matched distant metastases

    The CpG island methylator phenotype (CIMP) in stage III colon cancer (CRC) has been associated with improved survival after treatment with adjuvant irinotecan-based chemotherapy. In this analysis, we determine...

    Stacey A. Cohen, Ming Yu, Kelsey Baker, Mary Redman, Chen Wu, Tai J. Heinzerling, Ralph M. Wirtz, Elpida Charalambous, George Pentheroudakis, Vassiliki Kotoula, Konstantine T. Kalogeras, George Fountzilas and William M. Grady

    Clinical Epigenetics 2017 9:46

    Published on: 2 May 2017

  5. Research

    Integrated data analysis reveals potential drivers and pathways disrupted by DNA methylation in papillary thyroid carcinomas

    Papillary thyroid carcinoma (PTC) is a common endocrine neoplasm with a recent increase in incidence in many countries. Although PTC has been explored by gene expression and DNA methylation studies, the regula...

    Caroline Moraes Beltrami, Mariana Bisarro dos Reis, Mateus Camargo Barros-Filho, Fabio Albuquerque Marchi, Hellen Kuasne, Clóvis Antônio Lopes Pinto, Srikant Ambatipudi, Zdenko Herceg, Luiz Paulo Kowalski and Silvia Regina Rogatto

    Clinical Epigenetics 2017 9:45

    Published on: 2 May 2017

  6. Research

    LINE-1 is preferentially hypomethylated within adenomatous polyps in the presence of synchronous colorectal cancer

    Conventional tubular adenomas are frequently detected in patients undergoing average risk screening colonoscopy and are over-represented in patients who will develop colorectal cancer (CRC). Whether features o...

    Alice Chu Jiang, Lela Buckingham, William Barbanera, Amoah Yeboah Korang, Faraz Bishesari and Joshua Melson

    Clinical Epigenetics 2017 9:25

    Published on: 9 March 2017

  7. Research

    The dynamic DNA methylation landscape of the mutL homolog 1 shore is altered by MLH1-93G>A polymorphism in normal tissues and colorectal cancer

    Colorectal cancers (CRCs) undergo distinct genetic and epigenetic alterations. Expression of mutL homolog 1 (MLH1), a mismatch repair gene that corrects DNA replication errors, is lost in up to 15% of sporadic tu...

    Andrea J. Savio, Miralem Mrkonjic, Mathieu Lemire, Steven Gallinger, Julia A. Knight and Bharat Bapat

    Clinical Epigenetics 2017 9:26

    Published on: 9 March 2017

  8. Research

    Colorectal adenoma and carcinoma specific miRNA profiles in biopsy and their expression in plasma specimens

    MiRNA expression markers are well characterized in colorectal cancer (CRC), but less is known about miRNA expression profiles in colorectal adenomas. Genome-wide miRNA and mRNA expression analyses were conduct...

    Zsófia Brigitta Nagy, Barnabás Wichmann, Alexandra Kalmár, Orsolya Galamb, Barbara Kinga Barták, Sándor Spisák, Zsolt Tulassay and Béla Molnár

    Clinical Epigenetics 2017 9:22

    Published on: 14 February 2017

  9. Research

    Genome-wide DNA methylation profile identified a unique set of differentially methylated immune genes in oral squamous cell carcinoma patients in India

    Oral squamous cell carcinoma (OSCC) is one of the common malignancies in Southeast Asia. Epigenetic changes, mainly the altered DNA methylation, have been implicated in many cancers. Considering the varied env...

    Baidehi Basu, Joyeeta Chakraborty, Aditi Chandra, Atul Katarkar, Jadav Ritesh Kumar Baldevbhai, Debjit Dhar Chowdhury, Jay Gopal Ray, Keya Chaudhuri and Raghunath Chatterjee

    Clinical Epigenetics 2017 9:13

    Published on: 3 February 2017

  10. Research

    Immunomethylomic approach to explore the blood neutrophil lymphocyte ratio (NLR) in glioma survival

    Differentially methylated regions (DMRs) within DNA isolated from whole blood can be used to estimate the proportions of circulating leukocyte subtypes. We use the term “immunomethylomics” to describe the appl...

    John K. Wiencke, Devin C. Koestler, Lucas A. Salas, Joseph L. Wiemels, Ritu P. Roy, Helen M. Hansen, Terri Rice, Lucie S. McCoy, Paige M. Bracci, Annette M. Molinaro, Karl T. Kelsey, Margaret R. Wrensch and Brock C. Christensen

    Clinical Epigenetics 2017 9:10

    Published on: 2 February 2017

  11. Research

    PITX3 DNA methylation is an independent predictor of overall survival in patients with head and neck squamous cell carcinoma

    Molecular biomarkers assisting risk-group assignment and subsequent treatment stratification are urgently needed for patients with squamous cell cancer of the head and neck region (HNSCC). Aberrant methylation...

    Verena Sailer, Emily Eva Holmes, Heidrun Gevensleben, Diane Goltz, Freya Dröge, Alina Franzen, Jörn Dietrich, Glen Kristiansen, Friedrich Bootz, Andreas Schröck and Dimo Dietrich

    Clinical Epigenetics 2017 9:12

    Published on: 2 February 2017

  12. Research

    UroMark—a urinary biomarker assay for the detection of bladder cancer

    Bladder cancer (BC) is one of the most common cancers in the western world and ranks as the most expensive to manage, due to the need for cystoscopic examination. BC shows frequent changes in DNA methylation, ...

    Andrew Feber, Pawan Dhami, Liqin Dong, Patricia de Winter, Wei Shen Tan, Mónica Martínez-Fernández, Dirk S. Paul, Antony Hynes-Allen, Sheida Rezaee, Pratik Gurung, Simon Rodney, Ahmed Mehmood, Felipe Villacampa, Federico de la Rosa, Charles Jameson, Kar Keung Cheng…

    Clinical Epigenetics 2017 9:8

    Published on: 31 January 2017

  13. Research

    CDH22 hypermethylation is an independent prognostic biomarker in breast cancer

    Cadherin-like protein 22 (CDH22) is a transmembrane glycoprotein involved in cell-cell adhesion and metastasis. Its role in cancer is controversial because it has been described as being upregulated in colorec...

    Esperanza Martín-Sánchez, Saioa Mendaza, Ane Ulazia-Garmendia, Iñaki Monreal-Santesteban, Alicia Córdoba, Francisco Vicente-García, Idoia Blanco-Luquin, Susana De La Cruz, Ana Aramendia and David Guerrero-Setas

    Clinical Epigenetics 2017 9:7

    Published on: 24 January 2017

  14. Research

    Promoter hypermethylation of SHOX2 and SEPT9 is a potential biomarker for minimally invasive diagnosis in adenocarcinomas of the biliary tract

    Biliary tract carcinoma (BTC) is a fatal malignancy which aggressiveness contrasts sharply with its relatively mild and late clinical presentation. Novel molecular markers for early diagnosis and precise treat...

    V. Branchi, P. Schaefer, A. Semaan, A. Kania, P. Lingohr, J. C. Kalff, N. Schäfer, G. Kristiansen, D. Dietrich and H. Matthaei

    Clinical Epigenetics 2016 8:133

    Published on: 12 December 2016

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