XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

ERCC1 as a Biological Marker Guiding Management in Malignant Pleural Mesothelioma

“…In another perspective, it could be due to higher rates of ERCC1 release in order to correct metaplasia caused by smoking (Pfeifer et al, 2002). In a study on MPM patients by Betti et al, it was reported that ERCC1 enzyme is increased due to mutations caused by asbestos exposure (Betti et al, 2011). In our study, it was found that 61.7% of ERCC1-negative and 42.1% of ERCC1-positive patients were survived among the patients received cisplatin-based chemotherapy.…”

“…The primary function of ERCC1 is nucleotide excision repair of damaged DNA. There are strong evidence coming from preclinical and clinical trials, indicating that ERCC1 has an independent predictive value regarding prognosis, response to treatment, recurrence and overall survival (Olaussen et al, 2006;Ozkan et al, 2010;Betti et al, 2011; Zhang et al, 2012; Zhang et al, 2013; Li et al, 2013; Li XD et al, 2013; Mechanicsville 2013). Although there are studies on ERCC1 expression level and effects of chemotherapy on survival in MPM from several countries, this is a relatively new topic with conclusions covering small groups (Martin et al, 2008;Righi et al, 2010; Zimling et al, 2012).…”

Molecular biomarkers to assess health risks due to environmental contaminants exposure

“…SNPs are the most frequent type of polymorphisms in humans, accounting for approximately 90% of them (140). SNP identification is possible from different human samples, and venous blood is the tissue sample of choice; however, specific blood cell populations are used, for example leukocytes (141,142), lymphocytes (143)(144)(145) and the mononuclear fraction (146), and tissues such as placenta (20), or even buccal cells (147,148) are also appropriate for genotyping. Several methods have been developed for their identification, with DNA sequencing being the gold standard (149).…”

“…The most common method for SNP analysis uses restriction endonucleases in cases where the polymorphism creates or destroys a specific nucleotide recognition sequence for a restriction enzyme (restriction fragment length polymorphism or RFLP). Other useful methods are real-time PCR using TaqMan probes (13,148,150), and primer extension-based methods (145,151,152) (table 3).…”

“…Polymorphisms present in DNA repair genes are also considered variability factors that predispose individuals to health outcomes in high-risk situations of toxicological exposure. High asbestos pollution, for instance, is associated with malignant mesothelioma, and the individuals who carry the variants 399Q of XRCC1, N118N of ERCC1 and 241T of XRCC3 are at increased risk for disease development (145,152). Other DNA repair gene polymorphic variants reported as susceptibility factors are: 8-oxo-guanine-DNA glycosylase/AP lyase (hOGG1) 326C, that correlates with higher oxidative DNA damage in bus drivers exposed to PAHs and volatile compounds (146) and with increased risk for lung cancer by indoor PAH exposure (164); exon 23 variant of the Xeroderma pigmentosum-D (XPD) A35931C Lys751Gln, that induces higher levels of DNA strand breaks in the aforementioned population (146), and Xeroderma pigmentosum-C (XPC) polyAT insertion of 83 bp in intron 9 (PAT+), that associates with higher anti-BPDE-DNA adducts under low (172) and high levels of PAH exposure (173).…”