Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal cancer

Escalante, Paula; Barría, Tamara; Cancino, Miguel; Rahal, Maritza; Cerpa, Leslie C.; Sandoval, Carolina; Molina-Mellico, Sebastian; Suárez, M; Martínez, Matías F.; Cáceres, Dante; Quiñones, Luis A.; Varela, Nelson

doi:10.1042/bsr20191188

Cited by 9 publications

(3 citation statements)

References 29 publications

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“…Previous studies have also reported an association of TP53 R72 SNPs with laryngeal cancer [51]. In yet another recent study, Escalante et al suggested that TP53 R72 SNPs may be a risk factor for the pathogenesis of laryngeal cancer [52]. In addition, in the upper gastrointestinal tract, an increased risk of esophageal SCC has been associated with TP53 R72 SNPs [53], as also suggested regarding lung and breast cancer in a South Asian population [54].…”

Section: Discussionmentioning

confidence: 81%

The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(−) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients

et al. 2023

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Background: Somatic TP53 mutations are frequent in head and neck squamous cell carcinoma (HNSCC) and are important pathogenic factors. Objective: To study TP53 mutations relative to the presence of human papillomavirus (HPV) in tumors in HNSCC patients. Methods: Using a custom-made next-generation sequencing (NGS) panel on formalin-fixed, paraffin-embedded tumor tissue, we analyzed somatic TP53 mutations and the TP53 single-nucleotide polymorphism (SNP) codon 72 (P72R; rs1042522) (proline → arginine) from 104 patients with HNSCC. Results: Only 2 of 44 patients with HPV-positive (HPV(+)) HNSCC had a TP53 somatic mutation, as opposed to 42/60 HPV-negative (HPV(−)) HNSCC patients (p < 0.001). Forty-five different TP53 somatic mutations were detected. Furthermore, in HPV(−) patients, we determined an 80% prevalence of somatic TP53 mutations in the TP53 R72 polymorphism cohort versus 40% in the TP53 P72 cohort (p = 0.001). A higher percentage of patients with oral cavity SCC had TP53 mutations than HPV(−) oropharyngeal (OP) SCC patients (p = 0.012). Furthermore, 39/44 HPV(+) tumor patients harbored the TP53 R72 polymorphism in contrast to 42/60 patients in the HPV(−) group (p = 0.024). Conclusions: Our observations show that TP53 R72 polymorphism is associated with a tumor being HPV(+). We also report a higher percentage of somatic TP53 mutations with R72 than P72 in HPV(−) HNSCC patients.

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Section: Discussionmentioning

confidence: 81%

The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(−) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients

et al. 2023

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“…but disagree with, Sourvinos et al reporting that the Arg72Arg TP53 genotype may increase the incidence of laryngeal carcinoma and with Escalante et al how reported that C alle have an increased risk of laryngeal carcinoma. [20][21][22][23] Saleem et al in their study on oral squamous cell carcinoma that the homozygous change GG was more frequent (48.07%) than heterozygous GC (43.46%) or homozygous CC (8.47%) in the affected patient. 24 These differences in the impact of the Arg72Pro TP53 gene SNP on laryngeal and another carcinoma can be attributed to genetic heterogeneity.…”

Section: Discussionmentioning

confidence: 99%

Polymorphism in a tumor suppressor (TP53) gene (G215C) and risk of squamous cell carcinoma of the larynx

Elrahman

Elfarash²,

Badran³

2022

Egyptian Journal of Neck Surgery and Otorhinolaryngology

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Laryngeal cancers are equivalent to one-third of head and neck cancers and are considered an important source of morbidity and mortality. Early-stage disease is highly curable with either surgical or radiation monotherapy, whereas late-stage disease has a worse outcome. The p53 protein is situated in the cell nuclei and play role in cell cycle checkpoint regulation, apoptosis, DNA repair, and the regulated repairing process of the damaged DNA caused by chemicals, radiation, and ultraviolet rays. If this process is arrested due to any cause, the p 53 transmits a signal to trigger cell apoptosis and prevents the cell from replication and hence tumor development. About 14 SNPs have been identified in the wildtype TP53 gene, which could change the function of the p53 protein. One of the most common SNPs of the TP53 gene is TP53c215C>G(Pro72Arg) (rs1042522), located in the proline-rich domain of p53, which is important in normal p53 function. Studies show that the arginine (Arg) variant is able to induce apoptosis faster and more efficiently than proline (Pro), while the Pro variant is better for inducing cycle arrest. It has been reported that Arg72Pro SNP in the TP53 gene can increase the risk of cancers.

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“…Among the genetic factors studied are the presence of genes responsible for the production of certain proteins and enzymes and their polymorphisms [ 12 , 13 , 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk

Śnit

Misiołek

Ścierski

et al. 2021

IJERPH

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AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS AND METHODS: This study including 267 patients with histologically confirmed laryngeal cancer and 157 controls. The relationship between genetic variations DIAPH2 (rs6620138), PTPRD (rs3765142) and HIC1 (rs9901806) and the onset of laryngeal cancer were investigated. Statistical analysis to calculate the relationship between DIAPH2, PTPRD and HIC1 genes polymorphism and pathogenesis of laryngeal cancer. RESULTS: The results showed that rs6620138 DIAPH2 polymorphism could increase the onset risk of laryngeal cancer. Statistically significant differences in allele distribution of rs6620138 DIAPH2 and rs9901806 HIC1 in the case and control groups subgroups. CONCLUSIONS: This study results suggested that genetic variation of rs6620138 DIAPH2 polymorphism is related to the susceptibility to laryngeal cancer. Our results provide a basis to begin basic research on the role of DIAPH2 gene in the pathogenesis of laryngeal cancer.

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Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal cancer

Cited by 9 publications

References 29 publications

The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(−) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients

The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(−) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients

Polymorphism in a tumor suppressor (TP53) gene (G215C) and risk of squamous cell carcinoma of the larynx

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk

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