PT  - JOURNAL ARTICLE
AU  - Kathleen M Egan
AU  - L Burton Nabors
AU  - Jeffrey J Olson
AU  - Alvaro N Monteiro
AU  - James E Browning
AU  - Melissa H Madden
AU  - Reid C Thompson
TI  - Rare <em>TP53</em> genetic variant associated with glioma risk and outcome
AID  - 10.1136/jmedgenet-2012-100941
DP  - 2012 Jul 01
TA  - Journal of Medical Genetics
PG  - 420--421
VI  - 49
IP  - 7
4099  - http://jmg.bmj.com/content/49/7/420.short
4100  - http://jmg.bmj.com/content/49/7/420.full
SO  - J Med Genet2012 Jul 01; 49
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 ‘C’ 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.