Biological and predictive role of ERCC1 polymorphisms in cancer

Formica, Vincenzo; Doldo, Elena; Antonetti, Francesco; Nardecchia, Antonella; Ferroni, Patrizia; Riondino, Silvia; C, Morelli; Arkenau, Hendrick-Tobias; Orlandi, Armando

doi:10.1016/j.critrevonc.2017.01.016

Cited by 24 publications

(18 citation statements)

References 54 publications

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“…ERCC1 is also crucial for the repair of cyclophosphamide-induced DNA damage and cells, both normal and cancerous, and low-activity mutants may be hypersensitive to DNA crosslinking agents [ 30 ]. Two ERCC1 polymorphisms selected for this study, p.Asn118= (rs11615) in exon 4 and c.1510C>A (rs3212986) in 3’UTR are extensively studied in many cancers and chemotherapeutic regimes because of their negative influence on the stability and level of ERCC1 mRNA and on the protein expression [ 31 ]. Silent variant p.Asn118= is associated with lower protein’s expression, transcript stability and protein levels [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients

et al. 2018

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The differences in patients’ response to the same medication, toxicity included, are one of the major problems in breast cancer treatment. Chemotherapy toxicity makes a significant clinical problem due to decreased quality of life, prolongation of treatment and reinforcement of negative emotions associated with therapy.In this study we evaluated the genetic and clinical risk factors of FAC chemotherapy-related toxicities in the group of 324 breast cancer patients. Selected genes and their polymorphisms were involved in FAC drugs transport (ABCB1, ABCC2, ABCG2,SLC22A16), metabolism (ALDH3A1, CBR1, CYP1B1, CYP2C19, DPYD, GSTM1, GSTP1, GSTT1, MTHFR,TYMS), DNA damage recognition, repair and cell cycle control (ATM, ERCC1, ERCC2, TP53, XRCC1).The multifactorial risk models that combine genetic risk modifiers and clinical characteristics were constructed for 12 toxic symptoms. The majority of toxicities was dependent on the modifications in components of more than one pathway of FAC drugs, while the impact level of clinical factors was comparable to the genetic ones. For the carriers of multiple high risk factors the chance of developing given symptom was significantly elevated which proved the factor-dosage effect. We found the strongest associations between concurrent presence of clinical factors - overall and recurrent anemia, nephrotoxicity and early nausea and genetic polymorphisms in genes responsible for DNA repair, drugs metabolism and transport pathways. These results indicate the possibility of selection of the patients with expected high tolerance to FAC treatment and consequently with high chance of chemotherapy completion without the dose reduction, treatment delays and decline in the quality of life.

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Section: Discussionmentioning

confidence: 99%

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients

et al. 2018

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“…Elevated expression of DDB2 (damaged DNA binding protein 2) may be interpreted as response to DNA damage and repair, since this gene encodes a smaller subunit of the damaged DNA binding protein DDB, which recognizes DNA damage and is required for efficient NER, a DNA repair pathway involved in the removal of bulky DNA adducts (Forestier et al 2015 ). ERCC1 (DNA excision repair protein 1) forms the ERCC1-XPF enzyme complex that participates in NER and repair of inter-strand crosslinks (Formica et al 2017 ). Upregulated expression of TP73 (p73) is an indicator of DNA damage as TP73 promotes a growth arrest and/or apoptosis similar to p53 (Candi et al 2014 ).…”

Section: Discussionmentioning

confidence: 99%

Genotoxic potential of diesel exhaust particles from the combustion of first- and second-generation biodiesel fuels—the FuelHealth project

Kowalska

Węgierek-Ciuk

Brzóska

et al. 2017

Environ Sci Pollut Res

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Epidemiological data indicate that exposure to diesel exhaust particles (DEPs) from traffic emissions is associated with higher risk of morbidity and mortality related to cardiovascular and pulmonary diseases, accelerated progression of atherosclerotic plaques, and possible lung cancer. While the impact of DEPs from combustion of fossil diesel fuel on human health has been extensively studied, current knowledge of DEPs from combustion of biofuels provides limited and inconsistent information about its mutagenicity and genotoxicity, as well as possible adverse health risks. The objective of the present work was to compare the genotoxicity of DEPs from combustion of two first-generation fuels, 7% fatty acid methyl esters (FAME) (B7) and 20% FAME (B20), and a second-generation 20% FAME/hydrotreated vegetable oil (SHB: synthetic hydrocarbon biofuel) fuel. Our results revealed that particulate engine emissions from each type of biodiesel fuel induced genotoxic effects in BEAS-2B and A549 cells, manifested as the increased levels of single-strand breaks, the increased frequencies of micronuclei, or the deregulated expression of genes involved in DNA damage signaling pathways. We also found that none of the tested DEPs showed the induction of oxidative DNA damage and the gamma-H2AX-detectable double-strand breaks. The most pronounced differences concerning the tested particles were observed for the induction of single-strand breaks, with the greatest genotoxicity being associated with the B7-derived DEPs. The differences in other effects between DEPs from the different biodiesel blend percentage and biodiesel feedstock were also observed, but the magnitude of these variations was limited.Electronic supplementary materialThe online version of this article (10.1007/s11356-017-9995-0) contains supplementary material, which is available to authorized users.

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“…ERCC1 gene or Excision Repair Cross-Complementing Rodent Repair gene which harbored the rs2298881 variant, functions in a nucleotide excision repair pathway [39]. ERCC1 is found to be associated with multiple cancers.…”

Section: Network Analysismentioning

confidence: 99%

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

Bakshi

Nagpal

Sharma³

et al. 2020

BMC Cancer

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Background Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. Methods SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. Results The SNPs were rs12190287 (TCF21) having OR 1.713 (1.08–2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136–5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123–0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46–0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings. Conclusion It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

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Biological and predictive role of ERCC1 polymorphisms in cancer

Cited by 24 publications

References 54 publications

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients

Genotoxic potential of diesel exhaust particles from the combustion of first- and second-generation biodiesel fuels—the FuelHealth project

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

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