<i>CASP9</i> c.‐1339A&gt;G and <i>CASP3</i> c.‐1191A&gt;G polymorphisms alter susceptibility and clinical aspects of head and neck squamous cell carcinoma

Costa, Ericka Francislaine Dias; Lopes‐Aguiar, Leisa; Nogueira, Guilherme; Lima, Tathiane Regine Penna; Rinck‐Junior, José Augusto; Lourenço, Gustavo Jacob; Lima, Carmen Sílvia Passos

doi:10.1002/hed.25746

Cited by 5 publications

(2 citation statements)

References 20 publications

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“…Secondly, it was found that the TT genotype of TNFRSF1B c.587T>G SNV was more common in younger patients (patients aged ≤54 years compared to older patients), a common aspect of tumors with unequivocal genetic components, such as those of hereditary syndromes [ 50 , 51 ] and familial tumors [ 52 , 53 ], which are, respectively, determined by high and low penetrance mutations.…”

Section: Discussionmentioning

confidence: 99%

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Carvalho,

Gomez,

Carron

et al. 2024

IJMS

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Regulatory T lymphocytes play a critical role in immune regulation and are involved in the aberrant cell elimination by facilitating tumor necrosis factor connection to the TNFR2 receptor, encoded by the TNFRSF1B polymorphic gene. We aimed to examine the effects of single nucleotide variants TNFRSF1B c.587T>G, c.*188A>G, c.*215C>T, and c.*922C>T on the clinicopathological characteristics and survival of cutaneous melanoma (CM) patients. Patients were genotyped using RT-PCR. TNFRSF1B levels were measured using qPCR. Luciferase reporter assay evaluated the interaction of miR-96 and miR-1271 with the 3′-UTR of TNFRSF1B. The c.587TT genotype was more common in patients younger than 54 years old than in older patients. Patients with c.*922CT or TT, c.587TG or GG + c.*922CT or TT genotypes, as well as those with the haplotype TATT, presented a higher risk of tumor progression and death due to the disease effects. Individuals with the c.*922TT genotype had a higher TNFRSF1B expression than those with the CC genotype. miR-1271 had less efficient binding with the 3′-UTR of the T allele when compared with the C allele of the SNV c.*922C>T. Our findings, for the first time, demonstrate that TNFRSF1B c.587T>G and c.*922C>T variants can serve as independent prognostic factors in CM patients.

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Section: Discussionmentioning

confidence: 99%

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Carvalho,

Gomez,

Carron

et al. 2024

IJMS

Self Cite

View full text Add to dashboard Cite

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“…The experimental data here obtained were further confirmed by performing computational analyses of publicly available miRNA-gene interaction and miRNAs expression databases, including miRWalk, TCGA HNSC database and miRCancerdb. These bioinformatics analyses demonstrated the inhibitory action of hsa-miR-133a-3p and hsa-miR-375-3p towards a total of 147 genes of which some are involved in several molecular and biological processes underlying tumor development, including TP53, SHANK2, CASP9, etc., whose dysregulation is notoriously observed in oral cancer [45][46][47].…”

Section: Discussionmentioning

confidence: 99%

Droplet Digital PCR Analysis of Liquid Biopsy Samples Unveils the Diagnostic Role of hsa-miR-133a-3p and hsa-miR-375-3p in Oral Cancer

Crimi

Falzone

Gattuso

et al. 2020

Biology

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Despite the availability of screening programs, oral cancer deaths are increasing due to the lack of diagnostic biomarkers leading to late diagnosis and a poor prognosis. Therefore, there is an urgent need to discover novel effective biomarkers for this tumor. On these bases, the aim of this study was to validate the diagnostic potential of microRNAs (miRNAs) through the analysis of liquid biopsy samples obtained from ten oral cancer patients and ten healthy controls. The expression of four selected miRNAs was evaluated by using droplet digital PCR (ddPCR) in a pilot cohort of ten oral cancer patients and ten healthy donors. Bioinformatics analyses were performed to assess the functional role of these miRNAs. The expression levels of the predicted down-regulated hsa-miR-133a-3p and hsa-miR-375-3p were significantly reduced in oral cancer patients compared to normal individuals while no significant results were obtained for the up-regulated hsa-miR-503-5p and hsa-miR-196a-5p. ROC analysis confirmed the high sensitivity and specificity of hsa-miR-375-3p and hsa-miR-133a-3p. Therefore, both miRNAs are significantly down-regulated in cancer patients and can be used as biomarkers for the early diagnosis of oral cancer. The analysis of circulating miRNAs in a larger series of patients is mandatory to confirm the results obtained in this pilot study.

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Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis

Sargazi

Abghari

Sarani

et al. 2021

Appl Biochem Biotechnol

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CASP9 c.‐1339A>G and CASP3 c.‐1191A>G polymorphisms alter susceptibility and clinical aspects of head and neck squamous cell carcinoma

Cited by 5 publications

References 20 publications

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Droplet Digital PCR Analysis of Liquid Biopsy Samples Unveils the Diagnostic Role of hsa-miR-133a-3p and hsa-miR-375-3p in Oral Cancer

Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis

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