Is there evidence of involvement of DNA repair polymorphisms in human cancer?

Ricceri, Fulvio; Matullo, Giuseppe; Víneis, Paolo

doi:10.1016/j.mrfmmm.2011.07.013

Cited by 34 publications

(24 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is a body of evidence concerning different levels of DNA repair gene regulation. The majority of DNA repair genes are polymorphic in the human population, with as yet uncharacterized functional consequences (Ricceri et al, 2012). Therefore, DNA sequence analyses cannot be sufficiently informative for predicting DNA repair activity.…”

Section: Introductionmentioning

confidence: 99%

Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers

et al. 2014

View full text Add to dashboard Cite

Thousands of DNA lesions are estimated to occur in each cell every day and almost all are recognized and repaired. DNA repair is an essential system that prevents accumulation of mutations which can lead to serious cellular malfunctions. Phenotypic evaluation of DNA repair activity of individuals is a relatively new approach. Methods to assess base and nucleotide excision repair pathways (BER and NER) in peripheral blood cells based on modified comet assay protocols have been widely applied in human epidemiological studies. These provided some interesting observations of individual DNA repair activity being suppressed among cancer patients. However, extension of these results to cancer target tissues requires a different approach. Here we describe the evaluation of BER and NER activities in extracts from deep-frozen colon biopsies using an upgraded version of the in vitro comet-based DNA repair assay in which 12 reactions on one microscope slide can be performed. The aim of this report is to provide a detailed, easy-to-follow protocol together with results of optimization experiments. Additionally, results obtained by functional assays were analyzed in the context of other cellular biomarkers, namely single nucleotide polymorphisms and gene expressions. We have shown that measuring DNA repair activity is not easily replaceable by genomic or transcriptomic approaches, but should be applied with the latter techniques in a complementary manner. The ability to measure DNA repair directly in cancer target tissues might finally answer questions about the tissue-specificity of DNA repair processes and their real involvement in the process of carcinogenesis.

show abstract

Section: Introductionmentioning

confidence: 99%

Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers

et al. 2014

View full text Add to dashboard Cite

show abstract

“…The effect of polymorphic variants of the ERCC2 gene in the development of lung cancer [13,14] is more pronounced. This could be associated with direct con tact and high concentration of oncogenes in the epi thelium of this organ.…”

Section: Introductionmentioning

confidence: 99%

Association of polymorphisms in glutathione-S-Transferase and DNA repair genes with ovarian cancer risk in the Russian population

Khokhrin

Khrunin

Moiseev³

et al. 2012

Russ J Genet

View full text Add to dashboard Cite

Polymorphism of glutathione S transferase (GSTA1, GSTM1, GSTM3, GSTP1, and GSTT1) and DNA repair (ERCC1, ERCC2, and XRCC1) genes in samples of ovarian cancer patients and healthy women of the Russian ethnic group was studied. A trend in the allele frequency variation of ERCC2 gene single nucle otide polymorphism (rs13181, A > C) was revealed. The A allele frequency was higher in the sample of patients (60,6% versus 52,9%, P = 0.058).

show abstract

“…Gene-gene and gene-environmental interactions need to be taken into account in future studies, since the carcinogenic mechanisms involving alteration in DNA repair pathways are affected by exposure to environmental agents, and more relevance should be put to report about the level of exposure. It has been stressed that, whereas genotyping is accurate, environmental exposure is often classified with a high degree of uncertainty [204]. In addition, association studies would greatly benefit from analysis of haplotypes and combined effect of several SNPs in multiple and different genes taking part in DNA repair, since it is becoming recognized that the contribution of single variants to the genetic risk of cancer may be very modest.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, recent systematic reviewes and meta-analysis on the involvement of DNA repair polymorphisms in human cancers, based on the guidance “Venice criteria” for assessing cumulative epidemiologic evidence in genetic associations [202, 203], indicated an association of the rs1805794 SNP and bladder cancer risk according to the dominant model CG/CC vs GG [204]. …”

Section: Meta-analysis Studiesmentioning

confidence: 99%

NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review

Berardinelli

Masi

Antoccia

2013

View full text Add to dashboard Cite

The relationship between DNA repair failure and cancer is well established as in the case of rare, high penetrant genes in high cancer risk families. Beside this, in the last two decades, several studies have investigated a possible association between low penetrant polymorphic variants in genes devoted to DNA repair pathways and risk for developing cancer. This relationship would be also supported by the observation that DNA repair processes may be modulated by sequence variants in DNA repair genes, leading to susceptibility to environmental carcinogens. In this framework, the aim of this review is to provide the reader with the state of the art on the association between common genetic variants and cancer risk, limiting the attention to single nucleotide polymorphisms (SNPs) of the NBN gene and providing the various odd ratios (ORs). In this respect, the NBN protein, together with MRE11 and RAD50, is part of the MRN complex which is a central player in the very early steps of sensing and processing of DNA double-strand breaks (DSBs), in telomere maintenance, in cell cycle control, and in genomic integrity in general. So far, many papers were devoted to ascertain possible association between common synonymous and non-synonymous NBN gene polymorphisms and increased cancer risk. However, the results still remain inconsistent and inconclusive also in meta-analysis studies for the most investigated E185Q NBN miscoding variant.

show abstract

Is there evidence of involvement of DNA repair polymorphisms in human cancer?

Cited by 34 publications

References 33 publications

Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers

Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers

Association of polymorphisms in glutathione-S-Transferase and DNA repair genes with ovarian cancer risk in the Russian population

NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review

Contact Info

Product

Resources

About