CIMP-DRIVE

PorteursValentina BoevaAffiliation porteursInstitute Cochin-INSERM-Université Paris Descartes Paris

Discovery of noncoding genetic drivers implicated in the aggressive CpG-island methylator phenotype(CIMP)in adrenocortical carcinom

About one third of adrenocortical carcinoma patients bear aggressive CpG-island methylator phenotype (CIMP). No genetic drivers of CIMP have been discovered via copy number analysis and exome-sequencing. In addition, no driver genetic mutations have been identified in one half of non-CIMP tumors. Here we plan to perform whole genome sequencing of ACC tumors to discover functional non-coding mutations and structural variants that promote tumorigenesis and may lead to CIMP through enhancer hijacking or de novo formation and disruption of transcription factor binding sites.