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Epigenomes 2017, 1(3), 18;

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types

Genetics, Department of Biology, University of Pisa, Via Derna 1, 56121 Pisa, Italy
Unit of Medical Oncology 2, Azienda Ospedaliero-Universitaria Pisana, University of Pisa, 56126 Pisa, Italy
School of Life Health & Chemical Sciences, The Open University, Milton Keynes MK7 6AA, UK
Authors to whom correspondence should be addressed.
Academic Editor: Luciano Di Croce
Received: 31 August 2017 / Revised: 16 October 2017 / Accepted: 30 October 2017 / Published: 6 November 2017
(This article belongs to the Special Issue Polycomb and Trithorax Group of Proteins in Development and Disease)
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The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression. The EZH2 locus is rarely mutated in solid tumors and there is no comprehensive study of EZH2 single nucleotide variants (SNVs) associated with cancer susceptibility, prognosis and response to therapy. Here, for the first time, we review the functional roles of EZH2 DNA variants and propose a putative etiological role in 10 various solid tumors including: esophageal, hepatocellular, oral, urothelial, colorectal, lung and gastric cancers. In particular, we found that the C allele of the EZH2 variant rs3757441 is associated with increased EZH2 RNA expression and poorer prognosis (advanced stage) in at least two malignancies such as colorectal and hepatocellular carcinoma. This suggests that the C allele may be a functional risk variant in multiple malignant tumors. We therefore propose that the rs3757441 single nucleotide variant (SNV) be genotyped and real-time PCR assays be performed in large cohort studies in order to confirm this preliminary finding that could be useful for clinical practice. View Full-Text
Keywords: EZH2; PRC2; single nucleotide variant (SNV); cancers EZH2; PRC2; single nucleotide variant (SNV); cancers

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Paolicchi, E.; Fornaro, L.; Landi, S.; Rigas, S.; Crea, F. EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types. Epigenomes 2017, 1, 18.

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