Rare TP53 genetic variant associated with glioma risk and outcome

被引：34

作者：

Egan, Kathleen M. ^{[1
]}

Nabors, L. Burton ^{[2
]}

Olson, Jeffrey J. ^{[3
]}

Monteiro, Alvaro N.

Browning, James E. ^{[1
]}

Madden, Melissa H. ^{[1
]}

Thompson, Reid C. ^{[4
]}

机构：

[1] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA

[2] Univ Alabama Birmingham, Neurooncol Program, Birmingham, AL USA

[3] Emory Sch Med, Dept Neurosurg, Atlanta, GA USA

[4] Vanderbilt Univ, Med Ctr, Dept Neurol Surg, Nashville, TN USA

来源：

JOURNAL OF MEDICAL GENETICS | 2012年 / 49卷 / 07期

基金：

美国国家卫生研究院;

关键词：

CANCER;

D O I：

10.1136/jmedgenet-2012-100941

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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.

引用

页码：420 / 421

页数：2

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