{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Marc Sanson"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000328"],"host":["EGA"],"description":["EGA DAC EGAC00001000328"],"repository":["EGA"],"email":["marc.sanson@psl.aphp.fr"],"pubmed_abstract":["Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO."],"pubmed_title":["TCF12 is mutated in anaplastic oligodendroglioma."],"pubmed_authors":["Labreche Karim K, Simeonova Iva I, Kamoun Aurélie A, Gleize Vincent V, Chubb Daniel D, Letouzé Eric E, Riazalhosseini Yasser Y, Dobbins Sara E SE, Elarouci Nabila N, Ducray Francois F, de Reyniès Aurélien A, Zelenika Diana D, Wardell Christopher P CP, Frampton Mathew M, Saulnier Olivier O, Pastinen Tomi T, Hallout Sabrina S, Figarella-Branger Dominique D, Dehais Caroline C, Idbaih Ahmed A, Mokhtari Karima K, Delattre Jean-Yves JY, Huillard Emmanuelle E, Mark Lathrop G G, Sanson Marc M, Houlston Richard S RS"],"additional_accession":[]},"is_claimable":false,"name":"Molecular and Population Genetics (MPG) research at ICR DAC and POLA DAC","description":"Data Access Committee EGAC00001000328","dates":{"output":"2025-1-9"},"accession":"EGAC00001000328","cross_references":{"TAXONOMY":["9606"],"pubmed":["26068201"],"EGA":["EGAS00001001209","EGAD00001001452"]}}