Analysis of DNA repair gene polymorphisms and survival in low-grade and anaplastic gliomas

Berntsson, Shala Ghaderi; Wibom, Carl; Sjöström, Sara; Henriksson, Roger; Brännström, Thomas; Broholm, Helle; Johansson, Christoffer; Fleming, Sarah; McKinney, Patricia A.; Bethke, Lara; Houlston, Richard S.; Smits, Anja; Andersson, Ulrika; Melin, Beatrice

doi:10.1007/s11060-011-0614-5

Cited by 7 publications

(5 citation statements)

References 38 publications

(37 reference statements)

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“…The c.–6530C>G polymorphism of the gene (rs3793784) was associated with the modulation of transcription activity through changes in the binding of the Sp1 transcription factor as well as the risk of lung cancer [46]. The rs4253079 polymorphism, which is an A to C change in intron 4 of the gene, was associated with survival of patients with low-grade anaplastic gliomas [47]. Several polymorphisms in the ERCC6 gene have been associated with bladder [48], laryngeal [49] and oral [50] cancer.…”

Section: Ercc6 (Csb)mentioning

confidence: 99%

Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

Błasiak

Synowiec

Salminen

2012

IJMS

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The pathogenesis of age-related macular degeneration (AMD) is complex and involves interactions between environmental and genetic factors, with oxidative stress playing an important role inducing damage in biomolecules, including DNA. Therefore, genetic variability in the components of DNA repair systems may influence the ability of the cell to cope with oxidative stress and in this way contribute to the pathogenesis of AMD. However, few reports have been published on this subject so far. We demonstrated that the c.977C>G polymorphism (rs1052133) in the hOGG1 gene and the c.972G>C polymorphism (rs3219489) in the MUTYH gene, the products of which play important roles in the repair of oxidatively damaged DNA, might be associated with the risk of AMD. Oxidative stress may promote misincorporation of uracil into DNA, where it is targeted by several DNA glycosylases. We observed that the g.4235T>C (rs2337395) and c.–32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. These data confirm the importance of the cellular reaction to DNA damage, and this may be influenced by variability in DNA repair genes, in AMD pathogenesis.

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Section: Ercc6 (Csb)mentioning

confidence: 99%

Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

Błasiak

Synowiec

Salminen

2012

IJMS

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“…In glioma, four variants have been reported, with 4578C>T the only exonic polymorphism identified in a patient population from the north of the UK 153 . This variant was also detected in patients with breast cancer from Finland, Denmark, Germany, France, Spain, Poland, and the USA, and at the amino acid level encodes Pro1526Pro (exon 30).…”

Section: Atm Variants In Brain Tumorsmentioning

confidence: 99%

ATM in breast and brain tumors: a comprehensive review

Estiar

Mehdipour

2018

Cancer Biology & Medicine

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The ATM gene is mutated in the syndrome, ataxia-telangiectasia (AT), which is characterized by predisposition to cancer. Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM, patients with AT have an elevated risk of breast and brain tumors. An increased frequency of ATM mutations has also been reported in patients with breast and brain tumors; however, the magnitude of this risk remains uncertain. With the exception of a few common mutations, the spectrum of ATM alterations is heterogeneous in diverse populations, and appears to be remarkably dependent on the ethnicity of patients. This review aims to provide an easily accessible summary of common variants in different populations which could be useful in ATM screening programs. In addition, we have summarized previous research on ATM, including its molecular functions. We attempt to demonstrate the signiﬁcance of ATM in exploration of breast and brain tumors and its potential as a therapeutic target.

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“…This suggests that an individual susceptibility related to genetic factors (e.g., DNA repair capacity) might be associated with DIA tumorigenesis [3]. The nonhomologous end-joining repair (NHEJ) genes play an important role in the repair of DSBs resulting from exogenous attacks [9,10], and might be important cancer-correlated genetic factors [6,11–13]. …”

Section: Introductionmentioning

confidence: 99%

DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

Lin¹,

Chen²,

Wang³

et al. 2013

IJMS

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The DNA repair gene X-ray cross-complementary group 4 (XRCC4), an important caretaker of the overall genome stability, is thought to play a major role in human tumorigenesis. We investigated the association between an important polymorphic variant of this gene at codon 247 (rs373409) and diffusely infiltrating astrocytoma (DIA) risk and prognosis. This hospital-based case-control study investigated this association in the Guangxi population. In total, 242 cases with DIA and 358 age-, sex-, and race-matched healthy controls were genotyped using TaqMan-PCR technique. We found a significant difference in the frequency of XRCC4 genotypes between cases and controls. Compared with the homozygote of XRCC4 codon 247 Ala alleles (XRCC4-AA), the genotypes of XRCC4 codon 247 Ser alleles (namely XRCC4-AS or -SS) increased DIA risk (odds ratios [OR], 1.82 and 2.89, respectively). Furthermore, XRCC4 polymorphism was correlated with tumor dedifferentiation of DIA (r = 0.261, p < 0.01). Additionally, this polymorphism modified the overall survival of DIA patients (the median survival times were 26, 14, and 8 months for patients with XRCC4-AA, -AS, and -SS, respectively). Like tumor grade, XRCC4 codon 247 polymorphism was an independent prognostic factor influencing the survival of DIA. These results suggest that XRCC4 codon 247 polymorphism may be associated with DIA risk and prognosis among the Guangxi population.

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Analysis of DNA repair gene polymorphisms and survival in low-grade and anaplastic gliomas

Cited by 7 publications

References 38 publications

Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

ATM in breast and brain tumors: a comprehensive review

DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

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