RT Journal Article SR Electronic T1 Rare TP53 genetic variant associated with glioma risk and outcome JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 420 OP 421 DO 10.1136/jmedgenet-2012-100941 VO 49 IS 7 A1 Kathleen M Egan A1 L Burton Nabors A1 Jeffrey J Olson A1 Alvaro N Monteiro A1 James E Browning A1 Melissa H Madden A1 Reid C Thompson YR 2012 UL http://jmg.bmj.com/content/49/7/420.abstract AB Validation of a recent finding linking a rare variant in TP53 to the risk of glioma, the most common primary brain tumour, is reported here. This study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls. The variant ā€˜Cā€™ allele (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 rs78378222 SNP is the first confirmed rare susceptibility variant in glioma. Results may shed light on the aetiology and progression of these tumours.