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Genetics in glioma: lessons learned from genome-wide association studies.


ABSTRACT:

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 soma

SUBMITTER: Melin B 

PROVIDER: S-EPMC4075044 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature