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

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Abstrakt

Tytuł:: Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.
Autorzy:: Labreche K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Kinnersley B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Berzero G; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; University of Pavia and C. Mondino National Institute of Neurology, Pavia, Italy.
Di Stefano AL; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Rahimian A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Detrait I; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Marie Y; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Grenier-Boley B; Univ. Lille, Inserm, Institut Pasteur de Lille, U1167-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000, Lille, France.
Hoang-Xuan K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Delattre JY; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Idbaih A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK. .
Sanson M; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Źródło:: Acta neuropathologica [Acta Neuropathol] 2018 May; Vol. 135 (5), pp. 743-755. Date of Electronic Publication: 2018 Feb 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: Berlin : Springer Verlag
MeSH Terms:: Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Brain Neoplasms/*genetics
Glioma/*genetics
Isocitrate Dehydrogenase/*genetics
Telomerase/*genetics
Brain Neoplasms/metabolism ; Case-Control Studies ; Genetic Association Studies ; Genetic Loci ; Genetic Predisposition to Disease ; Glioma/metabolism ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; Preliminary Data ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-myc/genetics ; RNA, Messenger/metabolism ; Stathmin/genetics ; White People/genetics
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Grant Information:: United Kingdom WT_ Wellcome Trust
Substance Nomenclature:: 0 (MYC protein, human)
0 (Proto-Oncogene Proteins c-myc)
0 (RNA, Messenger)
0 (STMN3 protein, human)
0 (Stathmin)
EC 1.1.1.41 (Isocitrate Dehydrogenase)
EC 2.7.7.49 (TERT protein, human)
EC 2.7.7.49 (Telomerase)
Entry Date(s):: Date Created: 20180221 Date Completed: 20190701 Latest Revision: 20231105
Update Code:: 20240105
PubMed Central ID:: PMC5904227
DOI:: 10.1007/s00401-018-1825-z
PMID:: 29460007
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Recent genome-wide association studies of glioma have led to the discovery of single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence to investigate the relationship between risk SNPs and glioma subtype we analysed 1659 tumours profiled for IDH mutation, TERT promoter mutation and 1p/19q co-deletion. These data allowed definition of five molecular subgroups of glioma: triple-positive (IDH mutated, 1p/19q co-deletion, TERT promoter mutated); TERT-IDH (IDH mutated, TERT promoter mutated, 1p/19q-wild-type); IDH-only (IDH mutated, 1p/19q wild-type, TERT promoter wild-type); triple-negative (IDH wild-type, 1p/19q wild-type, TERT promoter wild-type) and TERT-only (TERT promoter mutated, IDH wild-type, 1p/19q wild-type). Most glioma risk loci showed subtype specificity: (1) the 8q24.21 SNP for triple-positive glioma; (2) 5p15.33, 9p21.3, 17p13.1 and 20q13.33 SNPs for TERT-only glioma; (3) 1q44, 2q33.3, 3p14.1, 11q21, 11q23.3, 14q12, and 15q24.2 SNPs for IDH mutated glioma. To link risk SNPs to target candidate genes we analysed Hi-C and gene expression data, highlighting the potential role of IDH1 at 2q33.3, MYC at 8q24.21 and STMN3 at 20q13.33. Our observations provide further insight into the nature of susceptibility to glioma.

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