| Title |
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci
|
|---|---|
| Published in |
Acta Neuropathologica, February 2018
|
| DOI | 10.1007/s00401-018-1825-z |
| Pubmed ID | |
| Authors |
Karim Labreche, Ben Kinnersley, Giulia Berzero, Anna Luisa Di Stefano, Amithys Rahimian, Ines Detrait, Yannick Marie, Benjamin Grenier-Boley, Khe Hoang-Xuan, Jean-Yves Delattre, Ahmed Idbaih, Richard S. Houlston, Marc Sanson |
| Abstract |
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. |
X Demographics
The data shown below were collected from the profiles of 19 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 21% |
| United Kingdom | 3 | 16% |
| China | 1 | 5% |
| Spain | 1 | 5% |
| Unknown | 10 | 53% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 10 | 53% |
| Scientists | 6 | 32% |
| Practitioners (doctors, other healthcare professionals) | 3 | 16% |
Mendeley readers
The data shown below were compiled from readership statistics for 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 54 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 20% |
| Student > Ph. D. Student | 9 | 17% |
| Student > Doctoral Student | 5 | 9% |
| Student > Master | 5 | 9% |
| Student > Bachelor | 4 | 7% |
| Other | 6 | 11% |
| Unknown | 14 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 31% |
| Biochemistry, Genetics and Molecular Biology | 8 | 15% |
| Neuroscience | 6 | 11% |
| Agricultural and Biological Sciences | 3 | 6% |
| Business, Management and Accounting | 2 | 4% |
| Other | 4 | 7% |
| Unknown | 14 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 April 2018.
All research outputs
#1,879,287
of 25,466,764 outputs
Outputs from Acta Neuropathologica
#394
of 2,530 outputs
Outputs of similar age
#40,044
of 344,447 outputs
Outputs of similar age from Acta Neuropathologica
#11
of 39 outputs
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