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Molecular and pathological characterization of the EZH2 rs3757441 single nucleotide polymorphism in colorectal cancer

Fornaro, Lorenzo; Faviana, Pinuccia; De Gregorio, Veronica; Vivaldi, Caterina; Paolicchi, Elisa; Masi, Gianluca; Loupakis, Fotios; Sensi, Elisa; Lupi, Cristiana; Fontanini, Garbriella; Wang, Yuzhuo; Danesi, Romano; Falcone, Alfredo and Crea, Francesco (2015). Molecular and pathological characterization of the EZH2 rs3757441 single nucleotide polymorphism in colorectal cancer. BMC Cancer, 15, article no. 874.

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The enhancer of zeste-homolog 2 (EZH2) is involved in cancer development through gene silencing by trimethylation of lysine 27 of histone 3 (H3K27me3). The C/C genotype for the EZH2 rs3757441 single-nucleotide polymorphism (SNP) is linked with poor prognosis in metastatic colorectal cancer (CRC), but molecular and pathological characterization of this SNP is lacking.
119 primary CRCs were analyzed. SNP was evaluated by real-time PCR from colonic healthy tissue, while EZH2 and H3K27me3 expression were studied by immunohistochemistry. We primarily looked for correlation between EZH2 rs3757441 genotypes and EZH2/H3K27me3 expression. Potential associations between EZH2/H3K27me3 expression and clinico-pathological features or KRAS exon 2 and BRAF exon 15 mutations were secondary endpoints. Statistical analysis was performed by chi-square test, T-test or ANOVA.
The C/C genotype was significantly associated with higher EZH2 (100 vs. 44 %; P = 0.019) and H3K27me3 (100 vs. 38 %; P = 0.009) staining intensity compared with C/T and T/T. EZH2 3+ staining significantly correlated with stronger H3K27me3 expression (P = 0.039). KRAS and BRAF mutations were not associated with EZH2 or H3K27me3 expression.
EZH2 rs3757441 C/C genotype is associated with stronger EZH2 and H3K27me3 immunoreactivity in primary CRC: this SNP may serve as a promising biomarker for EZH2-targeting agents and may add independent information to KRAS and BRAF testing.

Item Type: Journal Item
Copyright Holders: 2015 The Authors
ISSN: 1471-2407
Project Funding Details:
Funded Project NameProject IDFunding Body
Not SetNot SetFondazione ARCO Onlus
Keywords: BRAF ; colorectal cancer; EZH2 ; KRAS ; polycomb; single nucleotide polymorphism
Academic Unit/School: Faculty of Science, Technology, Engineering and Mathematics (STEM) > Life, Health and Chemical Sciences
Faculty of Science, Technology, Engineering and Mathematics (STEM)
Item ID: 44807
Depositing User: Francesco Crea
Date Deposited: 12 Nov 2015 11:32
Last Modified: 07 Dec 2018 12:57
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