Effect of TP53 16-bp and β-TrCP 9-bp INS/DEL polymorphisms in relation to risk of breast cancer

Eskandari-Nasab, Ebrahim; Hashemi, Mohammad; Amininia, Shadi; Ebrahimi, Mahdi; Rezaei, Maryam

doi:10.1016/j.gene.2015.05.048

Cited by 21 publications

(14 citation statements)

References 30 publications

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“…1). Genotyping of the 16-bp duplication polymorphism in TP53 was performed by PCR using forward (5'-CTG AAA ACA ACG TTC TGG TA-3') and reverse (5'-AAG GGG GAC TGT AGA TGG GTG-3') primers (31) as previously described (32). The PCR conditions were as follows: An initial denaturation step at 95˚C for 5 min, followed by 30 cycles at 95˚C for 30 sec, 60˚C for 30 sec and 72˚C for 30 sec, with a final extension step at 72˚C for 10 min.…”

Section: Methodsmentioning

confidence: 99%

Association between polymorphisms in TP53 and MDM2 genes and susceptibility to prostate cancer

et al. 2017

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Abstract. Tumor protein 53 (TP53), a tumor suppressor gene, is a vital cellular cancer suppressor in multicellular organisms. Murine double minute-2 (MDM2) is an oncoprotein that inhibits TP53 activity. A number of studies have examined the association of TP53 and MDM2 polymorphisms with the risk of common forms of cancer, but the findings remain inconclusive. The present study aimed to evaluate the impact of the 40-bp insertion/deletion (I/D) polymorphism (rs3730485) in the MDM2 promoter region and the 16-bp I/D polymorphism (rs17878362) in TP53 on the susceptibility of prostate cancer (PCa) in a sample of the Iranian population. This case-control study included 103 patients with pathologically confirmed PCa and 142 patients with benign prostatic hyperplasia. The IntroductionProstate cancer (PCa) is the most prevalent form of cancer among males in the United States (1). In Iran, the incidence of PCa is ~9.6 cases per 100,000 individuals, with a range of 3.2-16.0 per 100,000 in various geographical settings (2,3). This is comparable with the Asia-Pacific region (9.9 per 100,000), but significantly lower than in the rest of the world (32.8 per 100,000) (4). The median age at diagnosis is ~66 years and the 5-year survival rate of patients with PCa has been estimated to be 98.9% (5).The molecular mechanisms underlying the progression and carcinogenesis of PCa have not yet been clarified. Additional molecular markers that may be employed to detect PCa and to individualize patient therapy and prognosis are of great clinical importance. A number of large cohort and case-control studies with various populations suggest that family history is a primary risk factor for PCa (6-10).In humans, the tumor protein 53 (TP53) gene is located on the short arm of chromosome 17 (17p13.1) (11). TP53, an important tumor suppressor gene, is a crucial regulator of apoptosis and the cell cycle (12-15). When it is mutated, this regulation may be lost, leading to uncontrolled cell proliferation and potentially tumorigenesis (16).The human MDM2 gene is mapped on chromosome 12q14. 3-15 (17). MDM2 functions as a key negative regulator of TP53 (18)

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Section: Methodsmentioning

confidence: 99%

Association between polymorphisms in TP53 and MDM2 genes and susceptibility to prostate cancer

et al. 2017

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“…The p53 is a tumor suppressor gene and responsible for cell cycle regulation and protection of genomic stability, and its malfunction has been implicated with multistage hepatocarcinogenesis. The TP53 16-bp IVS3 (rs17878362) is a duplication polymorphism located on intron 3 of the gene, and its Insertion variant has been related with reduced production of p53 transcript and altered p53 mRNA processing, proposing that this variation might be a risk factor for human malignancies [11]. The gene polymorphisms in P53 gene such as codon 72 Arg/Pro polymorphism has been shown to be associated with the risk of hepatocellular carcinoma (HCC) [16], but no study has been performed with respect to the TP53 16-bp polymorphism in hepatic-related diseases.…”

Section: Introductionmentioning

confidence: 99%

Lack of relationship between PTEN 32-bp and TP53 16-bp Ins/Del polymorphisms and chronic hepatitis B virus infection

Eskandari

Dahmardeh

et al. 2017

VirusDis.

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TP53 and phosphate and tension homolog (PTEN) are two tumor suppressor genes that regulate cell proliferation, migration, and death. P53 and PTEN deficiency has been associated with hepatic fibrosis, a prominent pathological feature associated with chronic hepatitis B (CHB). The present study is aimed to assess the association of PTEN 32-bp Ins/Del (rs34421660) and TP53 16-bp Ins/Del polymorphisms with CHB infection susceptibility. A total of 411 subjects were recruited in this case-control study of 213 patients with CHB infection and 198 healthy individuals as controls. PTEN and TP53 deletions were detected by polymerase chain reaction method. We found no significant association between PTEN 32-bp Ins/Del polymorphism and the risk for CHB using either of codominant (Ins/Del vs. Ins/Ins: = 0.427; Del/Del vs. Ins/Ins: = 0.235), dominant (Ins/Del + Del/Del vs. Ins/Ins = 0.343) or recessive genetic model (Del/Del vs. Ins/Ins + Ins/Del: = 0.516). At allelic level although the PTEN Del variant allele was more common in CHB patients compared to controls (55 vs. 51), but the difference did not reach the statistical significant range (OR 0.87, = 0.327). Similarly, no association was observed between TP53 16-bp Ins/Del and the risk for CHB infection at both genotype and allele levels ( > 0.05). In summary, our study demonstrated that the PTEN 32-bp and TP53 16-bp Ins/Del polymorphisms did not affect the risk of CHB infection in the Iranian population.

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“…The presence of the 9-bp insertion allele is proposed to disrupt miR-920 binding to the β-TrCP 3’-UTR, increasing β-TrCP mRNA levels and conferring susceptibility to HCC. However, the β-TrCP 9N ins/del polymorphism is not associated with susceptibility to ovarian 102 or breast cancer 103 .…”

Section: Gene Polymorphismsmentioning

confidence: 89%

Dysregulation of ubiquitin ligases in cancer

Ronai

2015

Drug Resistance Updates

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Ubiquitin ligases are critical components of the ubiquitin proteasome system (UPS), which governs fundamental processes regulating normal cellular homeostasis, metabolism, and cell cycle in response to external stress signals and DNA damage. Among multiple steps of the UPS system required to regulate protein ubiquitination and stability, UBLs define specificity, as they recognize and interact with substrates in a temporally- and spatially-regulated manner. Such interactions are required for substrate modification by ubiquitin chains, which marks proteins for recognition and degradation by the proteasome, or alters their subcellular localization or assembly into functional complexes. UBLs are often deregulated in cancer, altering substrate availability or activity in a manner that can promote cellular transformation. Such deregulation can occur at the epigenetic, genomic, or post-translational levels. Alterations in UBL can be used to predict their contributions, affecting tumor suppressors or oncogenes in select tumors. Better understanding of mechanisms underlying UBL expression and activities is expected to drive the development of next generation modulators that can serve as novel therapeutic modalities. This review summarizes our current understanding of UBL deregulation in cancer and highlights novel opportunities for therapeutic interventions.

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Effect of TP53 16-bp and β-TrCP 9-bp INS/DEL polymorphisms in relation to risk of breast cancer

Cited by 21 publications

References 30 publications

Association between polymorphisms in TP53 and MDM2 genes and susceptibility to prostate cancer

Association between polymorphisms in TP53 and MDM2 genes and susceptibility to prostate cancer

Lack of relationship between PTEN 32-bp and TP53 16-bp Ins/Del polymorphisms and chronic hepatitis B virus infection

Dysregulation of ubiquitin ligases in cancer

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