Potential impact of (rs 4645878) BAX promoter −248G&gt;A and (rs 1042522) TP53 72Arg&gt;pro polymorphisms on epithelial ovarian cancer patients

Dholariya, Sagar; Mir, Rashid; Zuberi, Mariyam; Yadav, Prasant; Gandhi, Gauri; Khurana, Nita; Saxena, Alpana; Ray, P. C.

doi:10.1007/s12094-015-1338-3

Cited by 8 publications

(6 citation statements)

References 51 publications

(45 reference statements)

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“…Owing to genetic distribution of controls deviating from HWE and insufficient data, 7 articles were excluded. In the end, after serious of filters were applied, 14 eligible studies were recruited, including 12 studies [ 5 , 10 , 11 , 14 , 20 – 27 ] for susceptibility (3321 cases in case group, 3209 cases in control group), whose control groups were in line with HWE balance; 5 [ 5 , 12 – 14 , 28 ] for prognosis, among which 1 [ 28 ] was excluded because of greater heterogeneity, remaining 4 cases (549 cases). The characteristics and genotype distribution of the included analyses are presented in Tables 1 , 2 , and S1.…”

Section: Resultsmentioning

confidence: 99%

“…Meta-analysis of Sahu et al [ 9 ] embracing 7 studies, reported that the BAX polymorphism was not associated with tumor susceptibility. However, not only been the results unreliable because of out of the Hardy–Weinberg equilibrium (HWE) balance, but later studies [ 10 , 11 ] have suggested that the polymorphism was associated with susceptibility to cancer. Besides, neither did they make the subgroup analysis, nor did they perform the prognosis analysis.…”

Section: Introductionmentioning

confidence: 99%

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Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer

et al. 2018

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer

et al. 2018

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“…Inactivation of homologous recombination appears to be an early event, as 62.5% of tumors showed a LOH pattern suggestive of homologous recombination defects. Furthermore, polymorphism of TP53 may be a potential genetic modifier for development of EOC (39,40). Animal studies also demonstrated the importance of TP53 mutations in the development of EOC, as ovaries or fallopian tubes that harbor p53 mutations can develop into HGSOC in mice as well (41).…”

Section: Role Of P53 Mutations In Cause and Development Of Eocmentioning

confidence: 99%

TP53 mutations in epithelial ovarian cancer

Zhang

Cao

Nguyen

et al. 2016

Transl. Cancer Res.

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Genomic sequencing analyses of a variety of human cancers have revealed that massive mutations of cancer-relevant genes are the major alterations in cancerous cells, and their mutation frequencies or rates are highly associated with the development, progression, metastasis, and drug resistance of cancers as well as their clinical outcomes and prognosis. One predominant genetic alternation in human epithelial ovarian cancer (EOC) is the mutation of TP53 that encodes the tumor suppressor p53 protein. This essay will review the most recent progress in understanding the role of TP53 mutations in development, progression, and metastasis of EOC, and discuss the potential of TP53 mutations as diagnostic and prognostic biomarkers as well as therapeutic targets for EOC.

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“…Likewise, an Indian study on ovarian cancer and BAX −248 G/A polymorphism detected an association and an increased risk in individuals with the AA genotype and ovarian cancer occurrence (ORs = 4.1; 95% CI = 1.23-13.97). 12 Mirmajidi et al, 13 in a polymorphic analysis of the BAX (−248 G > A) gene in a sample of patients with gastric cancer, also noted that the G allele was more frequent between the case and control group. This study's in silico analysis demonstrated that the BAX (−248 G > A) alteration removed the SP1 transcription factor from AA genotype samples, affecting the cell's gene expression.…”

Section: Discussionmentioning

confidence: 93%

BAX gene (−248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil

et al. 2021

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Introduction Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (−248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. Objective The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (−248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. Methods This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. Results There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123–0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163–0.793). The BAX gene polymorphism (−248 G > A) was associated with papillary thyroid cancer. Conclusion BAX (−248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.

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Potential impact of (rs 4645878) BAX promoter −248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients

Abstract: The findings suggest that polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.

Cited by 8 publications

References 51 publications

Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer

Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer

TP53 mutations in epithelial ovarian cancer

BAX gene (−248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil

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