TP53 codon 72 polymorphism is associated with age at onset of glioblastoma

Ducray, François; Idbaïh, Ahmed; Marie, Yannick; Boisselier, Blandine; Colin, Carole; Laigle‐Donadey, Florence; Rodero, Mathieu P; Chinot, Olivier; Thillet, Joëlle; Hoang-Xuân, Khê; Delattre, Jean‐Yves; Sanson, Marc

doi:10.1212/01.wnl.0000341277.74885.ec

Cited by 29 publications

(16 citation statements)

References 30 publications

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“…The biological value of p53 Arg72Pro variant in cancer risk and progression is extremely controversial [6, 7, 31]. A possible explanation could be found in population genetics.…”

Section: Discussionmentioning

confidence: 99%

“…The Arg72 isoform is more efficient in inducing apoptosis, while the Pro72 variant activates transcriptionally several p53-dependent genes involved in DNA-repair and cell-cycle arrest [5]. A possible association between TP53 codon 72 variants and cancer progression has been reported for several tumour types [6–15]. …”

Section: Introductionmentioning

confidence: 99%

“…Despite TP53 inactivation in several tumours, [23–25] somatic mutations are rare in paediatric LGGs [26–28]. It is noteworthy, however, that few studies addressed the role of Arg72Pro SNP in glial tumours: most of them included high grade tumours or adult cases and yield inconsistent results [6, 15, 29–30]. …”

Section: Introductionmentioning

confidence: 99%

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TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

et al. 2016

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Pilocytic astrocytoma and ganglioglioma may occur in inaccessible or surgically difficult areas. In case of incomplete resection, the availability of biological predictors of tumour progression could be particularly important. To this end, an analysis of p53 codon 72 polymorphism and assessment of its role as prognostic marker were performed.The status of the p53 Arg72Pro polymorphism was evaluated by pyrosequencing method in a multicenter cohort of 170 paediatric patients. Genotype/phenotype associations were investigated either by means of bivariate or multivariate analyses.In the partially resected pilocytic astrocytomas, the Arg/Arg variant predicts early tumour progression (median survival time: 23.1 months) and is associated with poor event-free survival (p value = 0.0009). This finding remains true also in case of adjuvant therapies, with a 5-year event-free survival of 30.6% for cases with Arg/Arg variant vs. 78.7% for those with other genotypes. There is no association between ganglioglioma and the polymorphism.The assessment of Arg/Arg variant could improve the management of pilocytic astrocytoma. TP53 codon 72 analysis could distinguish low-risk cases, in which surgery could be conservative, from high-risk cases needing an aggressive surgery plan.

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“…The biological value of p53 Arg72Pro variant in cancer risk and progression is extremely controversial [6, 7, 31]. A possible explanation could be found in population genetics.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

et al. 2016

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“…Studying gastric cancer, Kim et al [31] found no correlation between any TP53 Pro72Arg allele and TP53 mutation; however, in their study, the TP53 mutational status was predicted by p53 protein immunopositivity, which might provide several false-negative cases [32,33]. On the other hand, El Hallani et al [34], studying glioblastomas, pointed to a relationship between the 72Pro allele and a TP53 somatic mutation. Indeed, this association seems to be dependent on the tumor tissue.…”

Section: Discussionmentioning

confidence: 99%

<b><i>TP53</i></b> Codon 72 and Intron 3 Polymorphisms and Mutational Status in Gastric Cancer: An Association with Tumor Onset and Prognosis

Filho¹,

Cordeiro²,

Vieira³

et al. 2012

Pathobiology

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Although TP53 alterations have been studied in human tumors, data considering the role of two common TP53 polymorphisms (Pro72Arg in codon 72 and Ins16bp in intron 3) and their associations with TP53 mutations in gastric cancer are very limited. Thus, we analyzed these parameters taking into consideration the clinicopathological data. DNA from 106 gastric tumor samples was available for TP53 Pro72Arg and TP53 Ins16bp polymorphism genotyping by PCR-RFLP and PCR, respectively. The mutational status of the TP53 exons 5–7 was assessed by the single-strand conformational polymorphism test. The TP53 72ArgArg genotype was statistically associated with patients aged ≥65 years (p = 0.039), and the intron 3 A2A2 genotype was correlated with late-stage tumors (III and IV; p = 0.043). Considering both polymorphisms, a negative correlation between the TP53 Pro-A1 haplotype and age <65 years (r = –0.211; p = 0.030) was found. Taking into account the TP53 mutations, the Pro/Pro genotype was positively correlated with the presence of exon 7 mutations (p = 0.049), and a correlation between this genotype and the number of mutations in TP53 was observed (p = 0.019). This study corroborates the understanding of TP53 polymorphisms in gastric carcinogenesis, especially regarding the genetic features in tumor onset and prognosis.

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“…The correlation between genotype and age at cancer diagnosis has been studied for several cancer-related genes (Canedo et al 2008;El Hallani et al 2009). For survivin in particular, ¡31G > C polymorphism has been associated with age of onset of ovarian cancer (Han et al 2009).…”

Section: Discussionmentioning

confidence: 99%

BIRC5 promoter SNPs do not affect nuclear survivin expression and survival of malignant pleural mesothelioma patients

Hmeljak

Erčulj

Dolžan

et al. 2011

J Cancer Res Clin Oncol

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TP53 codon 72 polymorphism is associated with age at onset of glioblastoma

Abstract: Our data suggest that TP53 functional variation is particularly critical for oncogenesis of glioblastoma in young patients.

Cited by 29 publications

References 30 publications

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

<b><i>TP53</i></b> Codon 72 and Intron 3 Polymorphisms and Mutational Status in Gastric Cancer: An Association with Tumor Onset and Prognosis

BIRC5 promoter SNPs do not affect nuclear survivin expression and survival of malignant pleural mesothelioma patients

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