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Identification of regulatory regions associated with mutation in the IDH1/2 genes in different tumor types

Grant number: 20/05492-2
Support type:Scholarships in Brazil - Master
Effective date (Start): May 01, 2020
Effective date (End): April 30, 2022
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Tathiane Maistro Malta Pereira
Grantee:Anna Beatriz Machado Vercesi
Home Institution: Faculdade de Ciências Farmacêuticas de Ribeirão Preto (FCFRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Associated research grant:18/00583-0 - Integrative epigenomic analysis of gliomas: defining regulatory regions associated with stemness and with the hypermethylator phenotype of IDH1/2 mutant tumors, AP.JP


In cancer, both genomic mutations and epigenetic changes occur, which include DNA methylation and post-translational modifications of histones. Mutations in the IDH1/2 genes are frequent in low-grade glioma, acute myeloid leukemia, cholangiocarcinoma and other tumor types; and are often associated with a DNA hypermethylation phenotype. The purpose of this study is to define the regulatory regions associated with the hypermethylating phenotype of tumors with mutations in the IDH1/2 genes. Public data and open source computational tools from the R/bioconductor will be used to map the shared and/or tissue-specific epigenetic changes associated with mutations in the IDH1/2 genes across 9 tumor types, which include brain lower grade glioma, cholangiocarcinoma, skin cutaneous melanoma, glioblastoma multiforme, uterine corpus endometrial carcinoma, acute myeloid leukemia, bladder urothelial carcinoma, liver hepatocellular carcinoma and colon adenocarcinoma. The identification of shared or tissue-specific epigenetic changes associated with mutations in the IDH1/2 genes will contribute to discovering the mechanisms that lead to deregulation of global DNA methylation and its clinical implications. (AU)