p53 Codon 72 Polymorphic Variants, Loss of Allele-Specific Transcription, and Human Papilloma Virus 16 and/or 18 E6 Messenger RNA Expression in Squamous Cell Carcinomas of the Head and Neck

Scheckenbach, Kathrin; Lieven, Oliver; Götte, Karl; Bockmühl, Ulrike; Zotz, Rainer B.; Bier, H.; Balz, Vera

doi:10.1158/1055-9965.1805.13.11

Cited by 16 publications

(1 citation statement)

References 42 publications

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“…The Pro47Ser variant (rs1800371) has been reported in populations of African ancestry (allelic frequency estimated at 2-4% in Africa and 1.2% in African-Americans) [16] and have been associated with increased risk of breast cancer among pre-menopausal women [17]. The Pro72Arg (rs1042522) is a non-conserved amino acid with reported altered electrophoretic mobility, conformation and function of the mutant protein [18]. This variant shows significant ethnic bias with Arginine allelic frequencies estimated at ~72%…”

Section: Introductionmentioning

confidence: 99%

Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

Diaga

Toure

Elmostafa

et al. 2022

JCGB

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Introduction Genomic mutations in TP53 gene in association with etiological risk factors have been associated with oral carcinogenesis. Herein, we screened for genomic variants of TP53 predisposing to oral cancers in Senegalese patients. Methodology 88 patients with confirmed diagnostic were recruited after informed consent. Blood samples were collected from each patient to perform DNA extraction, PCR amplification of all coding exons of TP53 followed by Sanger Sequencing of PCR products. Nucleotide sequences were analysed with Genalys software. 94 blood donors with no cancer diagnosis were also recruited as controls for association study between the most common variants identified in patients and predisposition to oral cancers. Results Sequence analysis showed that 52.27% of patients carry at least one mutation in TP53. Eleven genomic variants were identified, 7 variants already reported in databases and 4 new variants. The most recurrent variants in this study already reported as cancer-related variants were Pro72Arg (rs1042522; Arginine frequency estimated at 31.26%) and a 16 bp insertion in intron 3 (rs59758982; allelic frequency estimated at 26.25%). Haplotype analysis between these variants showed a strong linkage disequilibrium (D’ = 0.999, r2 = 0.153 and p-value < 0.05). However, association study did not find any significant association with susceptibility to oral cancer (p-value > 0.05). Conclusion Our study highlighted that despite the absence of association between the two most common cancer-related variants in Senegalese patients diagnosed with oral cancer, their strong LD suggested that they could be transmitted together in a common haplotype which may be implicated in oral carcinogenesis.

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Section: Introductionmentioning

confidence: 99%

Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

Diaga

Toure

Elmostafa

et al. 2022

JCGB

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p53 codon 72 polymorphisms in human papillomavirus‐negative and human papillomavirus‐positive squamous cell carcinomas of the oropharynx

Perrone

Mariani

Pastore

et al. 2007

Cancer

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Quantum mechanics (QM) calculations, molecular dynamics (MD) simulations using the condensed‐phase optimized molecular potentials for atomistic simulation studies (COMPASS) force field, and the atom‐centered density matrix propagation (ADMP) approach have been used to investigate properties of phosphoric acid (PA). QM using B3LYP/6‐31++G(d,p) density functional theory were used to calculate gas‐phase proton affinities and interaction energies of PA and its derivatives. Detailed single coordinate driving, followed by quadratic synchronous transit optimization was used to determine energy barriers for different proton transfer (PT) pathways. Determined energy barrier heights in ascending order are (unit: kJ/mol): H3O+→H3PO4 (0); H4P2O7→H3PO4 (2.61); H3PO4→H2PO 4− (5.31); H4PO 4+→H3PO4 (∼7.33); H3PO4→H4P2O7/H3PO4→H3PO4 (15.99); H4P2O7→H2O (28.61); H3PO4→H2O (47.14). The COMPASS force field was used to study condensed‐phase properties of PA. Good agreement between experimental data and MD results including density, radial distribution functions, and self‐diffusion coefficient at different temperatures provides validation of the COMPASS force field for PA. Finally, preliminary ADMP studies on a cluster of three PA molecules shows that the ADMP approach can reasonably describe the PT and self‐dissociation processes in PA. © 2010 Wiley Periodicals, Inc. Int J Quantum Chem, 2011

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Association of p53 codon 72 polymorphism with risk of second primary malignancy in patients with squamous cell carcinoma of the head and neck

Chen

Zafereo

et al. 2010

Cancer

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BACKGROUND p53 plays a critical role in cellular anti-cancer mechanisms, and has been correlated with second primary malignancy (SPM) development. A common polymorphism in codon 72 of the p53 results in an amino acid substitution and could influence p53 function. We hypothesized that p53 codon 72 polymorphism may be associated with risk of SPMs and SPM-free survival among patients with squamous cell carcinoma of the head and neck (SCCHN). METHODS A total of 1,271 patients, who were diagnosed with incident SCCHN between May 1995 and January 2007, were genotyped and followed for SPM development. Log-rank test and Cox proportional hazard models were used to compare SPM-free survival and SPM risk between the different genotype groups. RESULTS We found a significantly reduced SPM-free survival for patients with variant Pro72 allele compared with patients with Arg 72 homozygous genotype (Log-rank test, p = 0.005). Compared to SCCHN patients with the p53 72Arg/Arg genotype, there was a significantly greater risk of SPM associated with the p53 72Arg/Pro genotype (HR, 1.75, 95% CI, 1.17–2.61) and the combined p53 72Arg/Pro + Pro/Pro (HR, 1.58, 95%CI, 1.07–2.34). Furthermore, stratification analyses showed that the risk of SPM associated with p53 variant genotypes (Arg/Pro + Pro/Pro) was more pronounced in several subgroups. CONCLUSIONS Our findings suggest that p53 codon 72 polymorphism could be a risk marker for genetic susceptibility to SPM of patients with primary SCCHN.

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p53 Codon 72 Polymorphic Variants, Loss of Allele-Specific Transcription, and Human Papilloma Virus 16 and/or 18 E6 Messenger RNA Expression in Squamous Cell Carcinomas of the Head and Neck

Cited by 16 publications

References 42 publications

Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

p53 codon 72 polymorphisms in human papillomavirus‐negative and human papillomavirus‐positive squamous cell carcinomas of the oropharynx

Association of p53 codon 72 polymorphism with risk of second primary malignancy in patients with squamous cell carcinoma of the head and neck

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