886 Htert Promoter Gene Polymorphism and the Risk of Hepatocellular Carcinoma (Hcc) in Patients With Chronic Hepatitis B

Park, J.Y.; Chang, H-P; Ahn, Soohyun; Lee, J.M.; Kim, D.Y.; Lee, K.S.; Chon, C.Y.; Moon, Y.M.; Han, Kwang‐Hyub

doi:10.1016/s0168-8278(10)60887-2

Cited by 3 publications

(8 citation statements)

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“…After removing 662 duplicate records and 866 irrelevant records, we finally included 22 eligible studies in this meta-analysis [ 6 – 8 , 11 – 29 ]. Of these studies, 13 studies focused on the association between rs2853669 and cancer risk [ 6 , 7 , 12 – 14 , 19 , 23 – 29 ], eight studies focused on the association between rs2853669 and cancer prognosis [ 15 – 18 , 20 , 21 , 24 , 25 ], and eight studies focused on the modifying effect of rs2853669 on TERTp mutations [ 8 , 11 , 15 – 18 , 21 , 22 ].…”

Section: Resultsmentioning

confidence: 99%

“…An increasing number of studies suggest that somatic mutations (e.g., -124C>T and -146C>T) and single nucleotide polymorphisms (SNPs) within the TERT promoter ( TERTp ) could influence the susceptibility and prognosis of human cancers [ 6 – 12 ]. In particular, the SNP rs2853669 (T > C), located at -245 bp from the TERT ATG site, is associated with the risk of various cancers such as breast cancer [ 6 ], lung cancer [ 13 ], and hepatocellular carcinoma [ 14 ]; however, these results remain inconclusive. Some studies also supported a prognostic effect of rs2853669 on cancer prognosis [ 15 , 16 ] whereas other studies have disproved this conclusion [ 17 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

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Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis

Shen

Wang

et al. 2017

Oncotarget

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The polymorphism rs2853669 within the promoter of telomerase reverse transcriptase gene (TERTp) has been debated about its role in cancer risk and prognosis. Additionally, several studies report inconsistent results concerning the modifying effect of rs2853669 on the prognostic value of TERTp mutations in cancer patients. Here, we performed this meta-analysis to comprehensively evaluate the role of rs2853669 in the risk and prognosis of human cancer, and further assess its modifying impact on TERTp mutations in the survival of cancer patients. We systematically searched literature via PubMed, Web of Science, and EMBASE through July 2016, and included 22 eligible studies. The overall analysis (64,119 cases and 78,988 controls) demonstrated that rs2853669 did not increase or decrease the overall cancer risk. Subsequent analyses also did not reveal any association between rs2853669 and overall cancer prognosis. However, we identified a modifying effect of rs2853669 on TERTp mutations in that, among cancer patients with TERTp mutations, only those carrying the TT genotype had a poor survival (Hazard ratio = 1.56, 95% confidence interval = 1.06-2.28); subgroup analyses by cancer type also supported these results. In conclusion, our findings suggest that rs2853669 could be important for assessing the prognostic value of TERTp mutations. Future large studies are required to further validate our results.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis

Shen

Wang

et al. 2017

Oncotarget

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“…In contrast with C228T and C250T, rs2853669 was reported to disrupt an ETS binding site, which has been shown to affect telomerase activity and associate with cancer risk. 7 We also identified two rare single nucleotide polymorphisms (SNPs) (rs35226131 and rs35161420) in the same case and two germline mutations (C216T and C433T) infrequently ( Table 2). In summary, we showed for the first time that mutations in TERT promoter do occur in ESCC patients but at a very low frequency.…”

Section: Dear Editorsmentioning

confidence: 91%

Low frequency of TERT promoter somatic mutation in 313 sporadic esophageal squamous cell carcinomas

Zhao

Gao

Chen

et al. 2013

Intl Journal of Cancer

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Telomerase reverse transcriptase (TERT) gene encodes the catalytic subunit of telomerase; multiple independent variants at TERT locus are associated with telomere length and risk of malignant tumors. 1 Recently point mutations in the promoter of TERT gene have been shown to occur in melanomas, gliomas and other tumors and the mutation increased telomerase expression. [2][3][4] Esophageal cancer is the eighth most prevalent cancer in the world and squamous cell carcinoma (ESCC) is the major histological type in East Asian countries. 5 Previous study has shown no mutations in TERT gene promoter in ESCCs, however, the small sample number (N 5 22) yielded an inconclusive results. 3 In present study, tissue sections were reviewed by two experienced pathologists, respectively, to ensure that tumor cell purity 50% and confirm histological type, and also each patient had clinical information in detail (Table 1). We extracted total DNA from ESCC tumor and adjacent normal tissue. Primers were used to amplify the sequence region containing the two previously described recurrent TERT promoter mutations (C228T and C250T, hg19). 4 We analyzed the amplified fragment of tumor/normal pairs using Sanger sequencing with both directions to confirm the presence of the mutation. Finally, we evaluated TERT promoter mutations successfully in 313 ESCC samples and identified five somatic mutations (1.6%). C228T and C250T mutations occurred in four and one samples, respectively (Table 2). This result showed that the frequency of TERT promoter somatic mutation in ESCC was extremely low. The mutations did not correlate with any particular subtype such as age, sex, stage, lymph node metastasis and histological grade. We also analyzed our whole genome sequencing data from ten of stage I lung adenocarcinomas and revealed no somatic mutation, further analyses for large size samples are warranted.Previous studies have been shown that TERT promoter mutations of C228T and C250T create a new binding motif of GGAA (reverse complement of TTCC); and this motif is a binding site of E-twenty six (ETS) transcription factors. It has been proved that the members of the ETS transcription factor family associated with the development of different tissues as well as cancer progression. 6 Comparison to the wildtype TERT promoter, reporter assays demonstrated that each mutation could increase the transcriptional activity and might augment telomerase expression. 2,3 In the amplified TERT promoter region, we also identified a common polymorphism rs2853669 with an A>G carrier variant frequency of 56.9% (178/313), similar with the 1000

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“…Moreover, all previous genome-wide association studies (GWAS) showed an association of this SNP with telomere length (53). To the best of our knowledge, no previous GWAS study has reported the association of SNP with cancer risk/clinical features, although many individual previous studies have reported the association of this SNP with cancer risk across human cancer but not in cervical cancer (14)(15)(16)33).…”

Section: Cases Control Hwe ------------------------------------------mentioning

confidence: 96%

“…Meta-analysis results. Based on the inclusion criteria, a total of 17 studies from 14 previously published articles (15,(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35) along with the present study results were analyzed for the association between the TERT rs2583669 polymorphism and cancer susceptibility; this included 9,537 cancer cases and 12,370 controls (Table V). By pooling all the previous studies, a statistically significant association between the TERT rs2583669 polymorphism and cancer risk was identified (dominant model: Pooled OR=1.09; 95% CI, 1.03-1.16; P=0.004; Fig.…”

Section: Frequency Of Rs2853669 In South Indian Cervical Cancermentioning

confidence: 99%

Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women

et al. 2020

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A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population. However, at present, the role of this particular SNP with TERT promoter driver mutations and its genetic association with human papilloma virus (HPV) in patients with cervical cancer has not been determined. In the present study, the genetic association of the functional SNP rs2853669 in the presence/absence of TERT promoter hotspot mutations and HPV in patients with cervical cancer of South Indian origin was evaluated. To understand and compare the frequency of the variant allele and its risk association in different cancer types of various populations, the SNP was genotyped in 257 cervical cancer samples and 295 controls, and its associations with TERT promoter hotspot mutations and HPV were analyzed. Furthermore, an extensive search of previously published articles in PubMed, Embase and Web of Science was conducted; a meta-analysis was carried out to elucidate the association of the SNP with different cancer types in global populations. The SNP analysis showed significantly high frequency (41%) of homozygous variant allele rs2853669 (GG) in patients with cervical cancer compared with control samples [Recessive allele model odds ratio (OR)=1.71; 95% CI=1.20-2.43; P=0.003]. No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study. In addition, the overall meta-analysis revealed a significant association of the SNP rs2853669 with other cancer types in different ethnic populations (OR=1.09; 95% CI=1.03-1.16; P= 0.004). The present results suggested that the TERT SNP rs2853669 could play an important role in the risk of cervical cancer in a South Indian population.

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886 Htert Promoter Gene Polymorphism and the Risk of Hepatocellular Carcinoma (Hcc) in Patients With Chronic Hepatitis B

Cited by 3 publications

References 0 publications

Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis

Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis

Low frequency of TERT promoter somatic mutation in 313 sporadic esophageal squamous cell carcinomas

Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women

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