Survivin gene promoter polymorphism ‐31G/C as a risk factor for keratocystic odontogenic tumor development

Andrić, Miroslav; Nikolic, Nadja; Bošković, Marija; Miličić, Biljana; Škodrić, Sanja Radojević; Jovanović, Gordana; Milašin, Jelena

doi:10.1111/j.1600-0722.2011.00919.x

Cited by 14 publications

(16 citation statements)

References 34 publications

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“…that the C allele has a protective role. Similar results have already been obtained for another type of benign tumours in the Serbian population, the keratocystic odontogenic tumours (38), as well as in one type of malignancy -Wilm's tumours (39).…”

Section: Discussionsupporting

confidence: 74%

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

Nikolic¹,

Aničić²,

Tepavčević³

et al. 2013

Journal of Medical Biochemistry

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Summary Background: Genetic studies of salivary gland neoplasms were mainly focused on chromosomal changes, and some specific patterns of chromosome translocations have been described. However, molecular alterations, in particular the role of HER-2/H-ras/c-myc signalling cascade in pleomor- phic adenoma pathogenesis (PA), are less well characterized. In addition, data on single nucleotide polymorphisms (SNPs) as potential susceptibility factors for PA development are also quite scarce. Methods: Mutational analyses were performed by means of real-time PCR (HER-2 and c-myc amplification analysis), PCR-SSCP and sequencing (H-ras point mutation detec- tion). Polymorphisms analysis was performed by PCR-RFLP (survivin and MMP-9 genes). Results: Amplification of HER-2 and c-myc has been found in 13% and 9% of PA cases respectively. Point mutations in H-ras codons 12/13 have been detected in 17% of PAs. No correlation could be established between these alterations and clinical characteristics of PAs, whereas they might play a role in a subset of malignant salivary gland tumours. As for survivin -31 G/C polymorphism, C allele carriers had a 4-fold decrease of the risk of developing PA (p=0.05). Carriers of the variant allele T of the -1562C/T SNP in MMP-9 gene had a 4-fold increase of the risk of developing PA (p<0.001). Conclusions: A longer follow-up of PA patients harbouring mutations could uncover a prognostic role of HER-2 and c- myc amplification as predictors of adenoma transformation into carcinoma. Both survivin and MMP-9 promoter poly- morphisms represent susceptibility factors for the develop- ment of PAs in the Serbian population.

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Section: Discussionsupporting

confidence: 74%

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

Nikolic¹,

Aničić²,

Tepavčević³

et al. 2013

Journal of Medical Biochemistry

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“…As for survivin rs9904341, the ultimate analysis included four gastric cancer studies [28], [29], [30], [31], three hepatocellular cancer studies [20], [32], [33], three colorectal cancer studies [34], [35], [36], two esophageal [18], [37] and two bladder cancer studies [19], [21], as well as twelve studies of other tumors [16], [17], [38], [39], [40], [41], [42], [43], [44], [45], [46], [47]. Overall, 8 studies used Caucasians, 17 used Asians, one used mixed populations.…”

Section: Resultsmentioning

confidence: 99%

Association of Survivin Polymorphisms with Tumor Susceptibility: A Meta-Analysis

Zhu

et al. 2013

PLoS ONE

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BackgroundThe survivin polymorphisms have been shown to confer genetic susceptibility to various tumors, but the results are inconsistent. In order to accomplish a more precise estimation of the relationship, a meta-analysis was performed.ResultsFor rs9904341, a significantly increased tumor risk was found in overall meta-analysis under C/C vs. G/G (OR = 1.40, 95% CI = 1.13–1.74, p = 0.002), dominant (OR = 1.18, 95% CI = 1.01–1.38, p = 0.039) and recessive (OR = 1.34, 95% CI = 1.13–1.58, p = 0.001) genetic models and Asians group. In subgroup analyses of tumor types, we found a significant association between this SNP and an increased risk of gastric, colorectal, bladder and other tumors as well as a decreased risk of hepatocellular cancer. For rs17878467, a significantly decreased tumor risk was identified in overall meta-analysis for allele contrast (T vs. C: OR = 0.69, 95% CI = 0.51–0.92, p = 0.012), C/T vs. C/C (OR = 0.61, 95% CI = 0.42–0.88, p = 0.009) and dominant (OR = 0.62, 95% CI = 0.43–0.88, p = 0.007) genetic models and Asians group. For rs2071214, we found a significant association between this SNP and an increased tumor risk in overall meta-analysis under G/G vs. A/A (OR = 1.51, 95% CI = 1.04–2.18, p = 0.029) and recessive (OR = 1.54, 95% CI = 1.07–2.22, p = 0.020) genetic models and Asians group. Besides, there was a significant association of rs8073069 with an increased tumor risk under recessive genetic model (OR = 1.37, 95% CI = 1.01–1.84, p = 0.040), while no significant association between rs1042489 and tumor risk was detected.ConclusionsThe survivin rs9904341 most likely contributed to increased susceptibility to tumor in Asians as well as to gastric, colorectal and bladder cancers. As for rs17878467, the T allele might be a protective factor for tumor, especially in Asians. Moreover, the survivin rs8073069 and rs2071214 seemed to be associated with an increased tumor risk in Asians, while there was no association between the survivin rs1042489 and tumor risk.

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“…In contrast to our results, carrying G allele for survivin -31 C/G has reported that increased cancer risk in renal cell carcinoma (Qin et al, 2012), stomach cancer (Borges et al, 2011) and lung cancer (Jang et al, 2008) studies. Additionally, GG genotype for survivin -31 C/G polymorphism has been shown a risk factor in keratocystic odontogenic tumor development (Andric et al, 2012). Aynaci et al (2013) has reported that individuals carrying survivin 31 GC genotype had a significantly decreased risk of having non-small cell lung cancer.…”

Section: Discussionmentioning

confidence: 99%

Association Between Survivin Gene Polymorphisms and the Susceptibility to Colon Cancer Development in the Turkish Population

Yamak

Yaykaşlı²,

Yılmaz³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Background: Colon cancer is one of the most common cancers worldwide. Apoptosis is a necessary physiological process for cell elimination which is very important both cellular homeostasis and cell proliferation and differantiation. Dysregulation can lead to uncontrolled cell growth and tumor development. Survivin, a member of the IAP family, plays a key role in promotion of cell proliferation as well as inhibition of apoptosis in cancer cells. The aim of this study was to investigate whether specific genetic polymorphisms of survivin could be associated with colon cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between colon cancer risk and survivin gene polymorphisms. Materials and Methods: The relation between colon cancer and survivin -31 G/C (rs9904341), -241 C/T (rs17878467) and -625 C/G (rs8073069) polymorphism in promotor site of survivin gene associated with apoptosis was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: Individuals with -31C allele and CC genotype were found to have a higher risk of developing colon cancer (OR=13.4, p=0.01). The -241 CT genotype considerably increased the risk of colon cancer (OR=12.0, p=0.0001). However, there was no significant varaition of the survivin -625 C/G polymorphism among colon cancer patients and controls in our study. Conclusions: This study provides the first evidence that survivin -31 G/C and -241 C/T SNP significantly contribute to the risk of colon cancer in the Turkish population.

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Survivin gene promoter polymorphism ‐31G/C as a risk factor for keratocystic odontogenic tumor development

Cited by 14 publications

References 34 publications

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

Association of Survivin Polymorphisms with Tumor Susceptibility: A Meta-Analysis

Association Between Survivin Gene Polymorphisms and the Susceptibility to Colon Cancer Development in the Turkish Population

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