(ChemotherapyAdvisor) – A new genetic variant in the TP53 gene predicts susceptibility to the development of gliomas and may shed light on its etiology, according to a team of US-based researchers. This conclusion is based on a study entitled “Rare TP53 genetic variant associated with glioma risk and outcome,” which was published in the Journal of Medical Genetics on June 15.
The investigators aimed to validate recent data that linked a rare variant in TP53 to the risk of glioma, the most common primary brain tumor. In doing so, investigators in this study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls; patients were 18 years and older with a recent diagnosis of glioma. It was reported that one of the variant alleles (with an allelic frequency of 1.1% in controls) was associated with a 3.5-fold excess in glioma risk (odds ratio 3.54; P=0.0001). “Variant carriers had significantly improved survival (hazard ratio 0.52; P=0.009) when compared to non-carriers,” the investigators reported.
Also, the investigators wrote: The fact that the variant increased survival was an unexpected finding, adding that it is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path.
The investigators concluded that the rs78378222 SNP is the first confirmed rare susceptibility variant in glioma and that these results may shed light on the etiology and progression of these tumors.