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Rare TP53 genetic variant associated with glioma risk and outcome
  1. Kathleen M Egan1,
  2. L Burton Nabors2,
  3. Jeffrey J Olson3,
  4. Alvaro N Monteiro1,
  5. James E Browning1,
  6. Melissa H Madden1,
  7. Reid C Thompson4
  1. 1Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, Florida, USA
  2. 2Neuro-oncology Program, University of Alabama at Birmingham, Birmingham, Alabama, USA
  3. 3Department of Neurosurgery, Emory School of Medicine, Atlanta, Georgia, USA
  4. 4Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA
  1. Correspondence to Dr Kathleen M Egan, Moffitt Cancer Center & Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA; kathleen.egan{at}


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.

  • Glioma
  • glioblastoma
  • risk
  • prognosis
  • single nucleotide polymorphism
  • neuro-oncology

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  • Funding Financial support was received from Public Health Service Grants R01CA116174 from the National Cancer Institute, National Institutes of Health, Department of Health and Human Services, and institutional funding from the Moffitt Cancer Center, Tampa, Florida and the Vanderbilt-Ingram Comprehensive Cancer Center, Nashville, Tennessee, USA.

  • Competing interests None.

  • Ethics approval Ethics approval was provided by University of South Florida Division of Research Integrity and Compliance.

  • Provenance and peer review Not commissioned; externally peer reviewed.