{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001001264"],"host":["EGA"],"description":["EGA study EGAS00001001264"],"dataset_title":["CMML NGS data collection from Gustave Roussy"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["The cytidine analogues azacytidine and 5-aza-2'-deoxycytidine (decitabine) are commonly used to treat myelodysplastic syndromes, with or without a myeloproliferative component. It remains unclear whether the response to these hypomethylating agents results from a cytotoxic or an epigenetic effect. In this study, we address this question in chronic myelomonocytic leukaemia. We describe a comprehensive analysis of the mutational landscape of these tumours, combining whole-exome and whole-genome sequencing. We identify an average of 14±5 somatic mutations in coding sequences of sorted monocyte DNA and the signatures of three mutational processes. Serial sequencing demonstrates that the response to hypomethylating agents is associated with changes in DNA methylation and gene expression, without any decrease in the mutation allele burden, nor prevention of new genetic alteration occurence. Our findings indicate that cytosine analogues restore a balanced haematopoiesis without decreasing the size of the mutated clone, arguing for a predominantly epigenetic effect."],"pubmed_title":["Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents."],"pubmed_authors":["Merlevede Jane J, Droin Nathalie N, Qin Tingting T, Meldi Kristen K, Yoshida Kenichi K, Morabito Margot M, Chautard Emilie E, Auboeuf Didier D, Fenaux Pierre P, Braun Thorsten T, Itzykson Raphael R, de Botton Stéphane S, Quesnel Bruno B, Commes Thérèse T, Jourdan Eric E, Vainchenker William W, Bernard Olivier O, Pata-Merci Noemie N, Solier Stéphanie S, Gayevskiy Velimir V, Dinger Marcel E ME, Cowley Mark J MJ, Selimoglu-Buet Dorothée D, Meyer Vincent V, Artiguenave François F, Deleuze Jean-François JF, Preudhomme Claude C, Stratton Michael R MR, Alexandrov Ludmil B LB, Padron Eric E, Ogawa Seishi S, Koscielny Serge S, Figueroa Maria M, Solary Eric E"],"additional_accession":[]},"is_claimable":false,"name":"CMML Collection of WES, WGS, RNA-Seq and ERRBS data","description":"We first performed a comprehensive analysis of the genome of 66 chronic myelomonocytic leukemia cases using whole exome (N=49) or whole genome (N=17) sequencing for paired leukemic-control DNA. Then, we realized serial analysis of whole exome sequence in 17 cases, completed with serial RNA sequencing and DNA methylation analysis in 9 cases, including patients treated or not with hypomethylating agents.","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAS00001001264","cross_references":{"TAXONOMY":["9606"],"pubmed":["26908133"],"EGA":["EGAD00001001853","EGAC00001000342"]}}