Change search
ReferencesLink to record
Permanent link

Direct link
Genetics in glioma: lessons learned from genome-wide association studies
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology.
2013 (English)In: Current Opinion in Neurology, ISSN 1350-7540, E-ISSN 1473-6551, Vol. 26, no 6, 688-692 p.Article, review/survey (Refereed) Published
Abstract [en]

Purpose of review The purpose of this review is to describe the recent knowledge gathered from the identification of seven genomic regions that have been linked to the risk of developing malignant glioma. Recent findings The recent novel discoveries in fine mapping and genotype-phenotype studies will be highlighted. Through imputation and next-generation sequencing a novel genetic variant, rs55705857, with a strong association at 8q24 has been discovered and validated in two studies. This locus is specifically associated with IDH1-mutated and IDH2-mutated tumors and oligodendroglial tumors, albeit the specific mechanism of tumor development is not understood. The genetic variants associated with the risk of glioma in the EGFR gene have also been associated with specific somatic aberrations, including loss at the CDKN2A/B locus and allele specific loss of EGFR in the tumors. A specific TP53 low frequency variant has also been associated with glioma risk and validated in a separate data set. The genetic risk in the telomere regulating genes TERT and RTEL appear to be associated with higher grade tumors without IDH mutations. Summary The link of genetic loci to specific tumor subtypes may have relevance for understanding glioma biology, and for developing new diagnostic tools and targeted therapy for glioma.

Place, publisher, year, edition, pages
Lippincott Williams & Wilkins, 2013. Vol. 26, no 6, 688-692 p.
Keyword [en]
genotype, glioblastoma, glioma origin, oligodendroglioma, phenotype
National Category
URN: urn:nbn:se:umu:diva-85294DOI: 10.1097/WCO.0000000000000033ISI: 000327554300015OAI: diva2:694059
Available from: 2014-02-05 Created: 2014-01-31 Last updated: 2014-02-05Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Melin, Beatrice
By organisation
In the same journal
Current Opinion in Neurology

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 20 hits
ReferencesLink to record
Permanent link

Direct link