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. 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

  2. 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

  3. 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

  4. 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

  5. Research

    Prognostic significance of LINE-1 hypomethylation in oropharyngeal squamous cell carcinoma

    Inclusion of new biomarkers to improve a personalized treatment approach for oropharyngeal squamous cell carcinoma (OPSCC) is urgently needed. Hypomethylation of the Long interspersed nucleotide element-1 (LIN...

    Carlo Furlan, Jerry Polesel, Luigi Barzan, Giovanni Franchin, Sandro Sulfaro, Salvatore Romeo, Francesca Colizzi, Aurora Rizzo, Vittorio Baggio, Vittorio Giacomarra, Angelo Paolo Dei Tos, Paolo Boscolo-Rizzo, Emanuela Vaccher, Riccardo Dolcetti, Luca Sigalotti and Elisabetta Fratta

    Clinical Epigenetics 2017 9:58

    Published on: 30 May 2017

  6. Research

    Genome-wide DNA methylation profiling integrated with gene expression profiling identifies PAX9 as a novel prognostic marker in chronic lymphocytic leukemia

    In chronic lymphocytic leukemia (CLL), epigenomic and genomic studies have expanded the existing knowledge about the disease biology and led to the identification of potential biomarkers relevant for implement...

    Lata Rani, Nitin Mathur, Ritu Gupta, Ajay Gogia, Gurvinder Kaur, Jaspreet Kaur Dhanjal, Durai Sundar, Lalit Kumar and Atul Sharma

    Clinical Epigenetics 2017 9:57

    Published on: 30 May 2017

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

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