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• W2894513918 abstract "// Sara Ciceri 1 , Beatrice Gamba 1 , Paola Corbetta 1 , Patrizia Mondini 1 , Monica Terenziani 2 , Serena Catania 2 , Marilina Nantron 3 , Maurizio Bianchi 4 , Paolo D’Angelo 5 , Federica Torri 6 , Fabio Macciardi 6 , Paola Collini 7 , Martina Di Martino 8 , Fraia Melchionda 9 , Andrea Di Cataldo 10 , Filippo Spreafico 2 , Paolo Radice 1, * , Daniela Perotti 1, * and on behalf of the AIEOP study group ** 1 Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Research, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy 2 Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy 3 Department of Hematology and Oncology, Istituto G. Gaslini, Genova, Italy 4 Pediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children’s Hospital, Torino, Italy 5 Pediatric Oncology Unit, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy 6 Department of Psychiatry and Human Behavior, School of Medicine, University of California, Irvine, CA, USA 7 Soft Tissue and Bone Pathology, Histopathology, and Pediatric Pathology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy 8 Pediatric Oncology Unit, Pediatric Department, II University, Naples, Italy 9 Pediatric Hematology and Oncology Unit, Bologna University, Bologna, Italy 10 Pediatric Hematology and Oncology Unit, Catania University, Catania, Italy * These authors have contributed equally to this work ** http://www.aieop.org/web Correspondence to: Daniela Perotti, email: daniela.perotti@istitutotumori.mi.it Keywords: Wilms tumor; SNP array; CHEK2 Received: June 19, 2018     Accepted: September 01, 2018     Published: September 25, 2018 ABSTRACT Wilms tumour (WT), the most frequent malignant childhood renal tumour, shows a high degree of genetic and epigenetic heterogeneity. Loss of imprinting on chromosome 11p15 is found in a large fraction of cases and mutations in a few genes, including WT1 , CTNNB1 , WTX , TP53 and, more recently, SIX1, SIX2 and micro RNA processing genes (miRNAPGs), have been observed. However, these alterations are not sufficient to describe the entire spectrum of genetic defects underlying WT development. We inspected data obtained from a previously performed genome-wide single nucleotide polymorphism (SNP) array analysis on 96 WT samples. By selecting focal regions commonly involved in chromosomal anomalies, we identified genes with a possible role in WT development, based on the prior knowledge of their biological relevance, including MYCN, DIS3L2, MIR562 , HACE1 , GLI3 , CDKN2A and CDKN2B , PALB2 , and CHEK2 . The MYCN hotspot mutation c.131C>T was detected in seven cases (7.3%). Full sequencing of the remaining genes disclosed 16 rare missense variants and a splicing mutation. Most of these were present at the germline level. Promoter analysis of HACE1 , CDKN2A and CDKN2B disclosed partial methylation affecting HACE1 in a consistent fraction of cases (85%). Interestingly, of the four missense variants identified in CHEK2 , three were predicted to be deleterious by in silico analyses, while an additional variant was observed to alter mRNA splicing, generating a functionally defective protein. Our study adds additional information on putative WT genes, and adds evidences involving CHEK2 in WT susceptibility." @default.
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• W2894513918 date "2018-09-25" @default.
• W2894513918 modified "2023-10-16" @default.
• W2894513918 title "Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of <i>CHEK2</i> in Wilms tumour susceptibility" @default.
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• W2894513918 doi "https://doi.org/10.18632/oncotarget.26123" @default.
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