Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci

• DOI: 10.1007/s00401-018-1825-z
• Publication Date: 2018-02-19T09:35:01Z
• Authors: Karim Labreche; Ben Kinnersley; Giulia Berzero; Anna Luisa Di Ste...; Amithys Rahimian; Ines Detrait; Yannick Marie; Benjamin Grenier-...; Khe Hoang-Xuan; Jean-Yves Delattre; Ahmed Idbaih; Richard S. Houlston; Marc Sanson
• Keywords: SNP; Wild type

Recent genome-wide association studies of glioma have led to the discovery single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence investigate relationship between risk SNPs and subtype we analysed 1659 tumours profiled for IDH mutation, TERT promoter mutation 1p/19q co-deletion. These data allowed definition five molecular subgroups glioma: triple-positive (IDH mutated, co-deletion, mutated); TERT-IDH 1p/19q-wild-type); IDH-only wild-type, wild-type); triple-negative wild-type) TERT-only (TERT wild-type). Most showed specificity: (1) 8q24.21 SNP glioma; (2) 5p15.33, 9p21.3, 17p13.1 20q13.33 (3) 1q44, 2q33.3, 3p14.1, 11q21, 11q23.3, 14q12, 15q24.2 mutated glioma. To link target candidate genes Hi-C gene expression data, highlighting potential role IDH1 MYC STMN3 20q13.33. Our observations provide further insight into nature susceptibility