A survey of 790 cases of astrocytoma

Xue, Qing-cheng; Pu, Peiyu; Yang, Yue; Shen, Changhong

doi:10.1016/0303-8467(90)90004-o

Cited by 14 publications

(9 citation statements)

References 6 publications

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“…Glioblastoma multiforme (GBM), a highly lethal high-grade astrocytoma, accounts for nearly half of all gliomas [12]. We investigated a total of 204 brain tumors, including 77 meningiomas, 56 glioblastomas, 55 other astrocytomas, 10 oligodendrogliomas and 6 medulloblastomas.…”

Section: Resultsmentioning

confidence: 99%

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

Huang

Wang

He³

et al. 2015

European Journal of Cancer

168

150

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Background Several somatic mutation hotspots were recently identified in the TERT promoter region in human cancers. Large scale studies of these mutations in multiple tumor types are limited, in particular in Asian populations. This study aimed to: analyze TERT promoter mutations in multiple tumor types in a large Chinese patient cohort, investigate novel tumor types and assess the functional significance of the mutations. Methods TERT promoter mutation status was assessed by Sanger sequencing for 13 different tumor types and 799 tumor tissues from Chinese cancer patients. Thymic epithelial tumors, gastrointestinal leiomyoma, and gastric schwannoma were included, for which the TERT promoter has not been previously sequenced. Functional studies included TERT expression by RT-qPCR, telomerase activity by the TRAP assay, and promoter activity by the luciferase reporter assay. Results TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), oligodendroglioma (70.0%), medulloblastoma (33.3%), and hepatocellular carcinoma (31.4%). C228T and C250T were the most common mutations. In urothelial carcinoma, several novel rare mutations were identified. TERT promoter mutations were absent in GIST, thymic epithelial tumors, gastrointestinal leiomyoma, gastric schwannoma, cholangiocarcinoma, gastric and pancreatic cancer. TERT promoter mutations highly correlated with upregulated TERT mRNA expression and telomerase activity in adult gliomas. These mutations differentially enhanced the transcriptional activity of the TERT core promoter. Conclusions TERT promoter mutations are frequent in multiple tumor types and have similar distributions in Chinese cancer patients. The functional significance of these mutations reflect the importance to telomere maintenance and hence tumorigenesis, making them potential therapeutic targets.

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Section: Resultsmentioning

confidence: 99%

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

Huang

Wang

He³

et al. 2015

European Journal of Cancer

168

150

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“…It has been reported that TERT rs2736098 may cause an increased risk of glioma in the Chinese population (Chen et al, 2011). Glioma, which develops from glial cells that surround and suppor neurons (Little et al, 1998), is the most common histological type of primary intracerebral neoplasm in China and the West, and accounts for nearly 80% of malignant primary brain tumors in humans (Xue et al, 1990). In a study of both Asian and European individuals, the TERT rs2736098 polymorphism was identified as a likely contributor to increased risk of developing bladder cancer in individuals of Asian ancestry (Gago-Dominguez et al, 2011).…”

Section: Tert Rs2736098 Polymorphism and Cancer Risk: Results Of A Mementioning

confidence: 99%

TERT rs2736098 Polymorphism and Cancer Risk: Results of a Meta-analysis

Zou²,

Zhao³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Objective: Several studies have demonstrated associations between the TERT rs2736098 single nucleotide polymorphisms (SNPs) and susceptibility to cancer development. However, there are conflicting results. A systematic meta-analysis was therefore performed to establish the cancer risk associated with the polymorphism. Methods: In this meta-analysis, a total of 6 case-control studies, including 5,567 cases and 6,191 controls, were included. Crude odds ratios with 95% confidence intervals were used to assess the strength of associations in several genetic models. Results: Our results showed no association reaching the level of statistical significance for overall risk. Interestingly, in the stratified analyses (subdivided by ethnicity), significantly increased risks were found in the Asian subgroup which indicates the TERT rs2736098 polymorphism may have controversial involvement in cancer susceptibility. Conclusions: Overall, this meta-analysis indicates that the TERT rs2736098 polymorphism may have little involvement in cancer susceptibility.

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“…Gliomas are the most common type of primary intracerebral neoplasm in China as well as in the West, and comprise more than 40% of primary brain tumors in humans [1-3]. Although the etiology of gliomas remains unclear, exposure to ionizing radiation (IR) and genetic alterations are unequivocally associated with an increased risk of gliomas [4].…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility

et al. 2013

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BackgroundGenetic variations in DNA double-strand break repair genes can influence the ability of a cell to repair damaged DNA and alter an individual’s susceptibility to cancer. We studied whether polymorphisms in DNA double-strand break repair genes are associated with an increased risk of glioma development.MethodsWe genotyped 10 potentially functional single nucleotide polymorphisms (SNPs) in 7 DNA double-strand break repair pathway genes (XRCC3, BRCA2, RAG1, XRCC5, LIG4, XRCC4 and ATM) in a case–control study including 384 glioma patients and 384 cancer-free controls in a Chinese Han population. Genotypes were determined using the OpenArray platform.ResultsIn the single-locus analysis there was a significant association between gliomas and the LIG4 rs1805388 (Ex2 +54C>T, Thr9Ile) TT genotype (adjusted OR, 3.27; 95% CI, 1.87-5.71), as well as the TC genotype (adjusted OR, 1.62; 95% CI, 1.20-2.18). We also found that the homozygous variant genotype (GG) of XRCC4 rs1805377 (IVS7-1A>G, splice-site) was associated with a significantly increased risk of gliomas (OR, 1.77; 95% CI, 1.12-2.80). Interestingly, we detected a significant additive and multiplicative interaction effect between the LIG4 rs1805388 and XRCC4 rs1805377 polymorphisms with an increasing risk of gliomas. When we stratified our analysis by smoking status, LIG4 rs1805388 was associated with an increased glioma risk among smokers.ConclusionsThese results indicate for the first time that LIG4 rs1805388 and XRCC4 rs1805377, alone or in combination, are associated with a risk of gliomas.

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A survey of 790 cases of astrocytoma

Cited by 14 publications

References 6 publications

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

TERT rs2736098 Polymorphism and Cancer Risk: Results of a Meta-analysis

Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility

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