Susana Pastor

Universitat Autònoma de Barcelona

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Ricard Marcos

Universitat Autònoma de Barcelona

Antonia Velázquez

Universitat Autònoma de Barcelona

Lara Rodríguez‐Ribera

Universitat Autònoma de Barcelona

José Ballarín

Puigvert Foundation

Alba Hernández

Universitat Autònoma de Barcelona

Zuray Corredor

Universidad Cooperativa de Colombia

Juan Manuel Díaz

Western University

Irene Silva

Universitat Autònoma de Barcelona

Elisabet Coll

Puigvert Foundation

Elisabeth Coll

Organización Nacional de Trasplantes

Cooperative Institutions

Universitat Autònoma de Barcelona

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública

Centre for Biomedical Network Research on Rare Diseases

Istituti di Ricovero e Cura a Carattere Scientifico

Joint Research Centre

University of Pisa

Centro de Investigación Biomédica en Red

Heidelberg University

German Cancer Research Center

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Genome-Wide Association Study on Differentiated Thyroid Cancer

The Journal of Clinical Endocrinology & Metabolism (2013)

Aleksandra Köhler Bowang Chen Federica Gemignani Rossella Elisei Cristina Romei

Genome-wide association studies (GWASs) of differentiated thyroid cancer (DTC) have identified associations with polymorphisms at 2q35 (DIRC3), 8p12 (NRG1), 9q22.33 (FOXE1), and 14q13.2 (NKX2-1). However, most of the inherited genetic risk factors of DTC remain to be discovered. Our objective was to identify additional common DTC susceptibility loci. We conducted a GWAS in a high-incidence Italian population of 690 cases and 497 controls and followed up the most significant polymorphisms in 2 additional Italian series and in 3 low-incidence populations totaling 2958 cases and 3727 controls. After excluding the most robust previously identified locus (9q22.33), the strongest association was shown by rs6759952, confirming the recently published association in DIRC3 (odds ratio [OR] = 1.21, P = 6.4 × 10−10, GWAS and all replications combined). Additionally, in the combined analysis of the Italian series, suggestive associations were attained with rs10238549 and rs7800391 in IMMP2L (OR = 1.27, P = 4.1 × 10−6; and OR = 1.25, P = 5.7 × 10−6), rs7617304 in RARRES1 (OR = 1.25, P = 4.6 × 10−5) and rs10781500 in SNAPC4/CARD9 (OR = 1.23, P = 3.5 × 10−5). Our findings provide additional insights into the genetic and biological basis of inherited genetic susceptibility to DTC. Additional studies are needed to determine the role of the identified polymorphisms in the development of DTC and their possible use in the clinical practice.

Genome-wide Association Study

Genetic Association

Genetic predisposition

10.1210/jc.2013-1941

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Citations (117)

Exposure to disinfection by-products in swimming pools and biomarkers of genotoxicity and respiratory damage – The PISCINA2 Study

Environment International (2019)

Laia Font-Ribera Esther Marco Joan O. Grimalt Susana Pastor Ricard Marcos

Swimming in pools is a healthy activity that entails exposure to disinfection by-products (DBPs), some of which are irritant and genotoxic.We evaluated exposure to DBPs during swimming in a chlorinated pool and the association with short-term changes in genotoxicity and lung epithelium permeability biomarkers.Non-smoker adults (N = 116) swimming 40 min in an indoor pool were included. We measured a range of biomarkers before and at different times after swimming: trihalomethanes (THMs) in exhaled breath (5 min), trichloroacetic acid (TCAA) in urine (30 min), micronuclei in lymphocytes (1 h), serum club cell protein (CC16) (1 h), urine mutagenicity (2 h) and micronuclei in reticulocytes (4 days in a subset, N = 19). Several DBPs in water and trichloramine in air were measured, and physical activity was extensively assessed. We estimated interactions with polymorphisms in genes related to DBP metabolism.Median level of chloroform, brominated and total THMs in water was 37.3, 9.5 and 48.5, μg/L, respectively, and trichloramine in air was 472.6 μg/m3. Median exhaled chloroform, brominated and total THMs increased after swimming by 10.9, 2.6 and 13.4, μg/m3, respectively. Creatinine-adjusted urinary TCAA increased by 3.1 μmol/mol. Micronuclei in lymphocytes and reticulocytes, urine mutagenicity and serum CC16 levels remained unchanged after swimming. Spearman correlation coefficients showed no association between DBP exposure and micronuclei in lymphocytes, urine mutagenicity and CC16. Moderate associations were observed for micronuclei in reticulocytes and DBP exposure.The unchanged levels of the short-term effect biomarkers after swimming and null associations with personal estimates of exposure to DBPs suggest no measurable effect on genotoxicity in lymphocytes, urine mutagenicity and lung epithelium permeability at the observed exposure levels. The moderate associations with micronuclei in reticulocytes require cautious interpretation given the reduced sample size.

Inhalation exposure

10.1016/j.envint.2019.104988

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In Vitro Approaches to Determine the Potential Carcinogenic Risk of Environmental Pollutants

International Journal of Molecular Sciences (2023)

Irene Barguilla Véronique Maguer‐Satta Boris Guyot Susana Pastor Ricard Marcos

One important environmental/health challenge is to determine, in a feasible way, the potential carcinogenic risk associated with environmental agents/exposures. Since a significant proportion of tumors have an environmental origin, detecting the potential carcinogenic risk of environmental agents is mandatory, as regulated by national and international agencies. The challenge mainly implies finding a way of how to overcome the inefficiencies of long-term trials with rodents when thousands of agents/exposures need to be tested. To such an end, the use of in vitro cell transformation assays (CTAs) was proposed, but the existing prevalidated CTAs do not cover the complexity associated with carcinogenesis processes and present serious limitations. To overcome such limitations, we propose to use a battery of assays covering most of the hallmarks of the carcinogenesis process. For the first time, we grouped such assays as early, intermediate, or advanced biomarkers which allow for the identification of the cells in the initiation, promotion or aggressive stages of tumorigenesis. Our proposal, as a novelty, points out that using a battery containing assays from all three groups can identify if a certain agent/exposure can pose a carcinogenic risk; furthermore, it can gather mechanistic insights into the mode of the action of a specific carcinogen. This structured battery could be very useful for any type of in vitro study, containing human cell lines aiming to detect the potential carcinogenic risks of environmental agents/exposures. In fact, here, we include examples in which these approaches were successfully applied. Finally, we provide a series of advantages that, we believe, contribute to the suitability of our proposed approach for the evaluation of exposure-induced carcinogenic effects and for the development of an alternative strategy for conducting an exposure risk assessment.

10.3390/ijms24097851

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Occupational exposure to pesticides and cytogenetic damage: Results of a Hungarian population study using the micronucleus assay in lymphocytes and buccal cells

Environmental and Molecular Mutagenesis (2002)

Susana Pastor A. Creus N. Xamena Csaba Siffel Ricard Marcos

Abstract The frequency of micronuclei (MN) in peripheral blood lymphocytes and in buccal epithelial cells was used as a biomarker of genotoxic effects resulting from occupational exposure to pesticides. In addition, the cytokinesis‐block proliferation index (CBPI) was calculated to detect possible variations in the proliferative kinetics of lymphocytes due to pesticide exposure. This study was performed on 84 pesticide‐exposed workers and 65 unexposed controls from Hungary. The pesticide‐exposed workers, classified as moderately and highly exposed, were also evaluated separately. Statistical evaluation of the cytogenetic biomarkers indicated that there were no significant differences between pesticide‐exposed workers and controls, nor between moderately and highly exposed workers. Nevertheless, the statistical analysis revealed that additional factors such as age, sex, ingestion of raw vegetables, and working as a pesticide applicator affected lymphocyte MN frequency. In addition, age, sex, and smoking affected the frequency of MN in buccal cells. Results from the CBPI analysis showed that the proliferation index decreased with pesticide exposure and that this parameter was also affected by smoking and by the gender of individuals. The results of this study indicate no significant increase in MN in this group of Hungarian workers; however, the reduced CBPI in the highly exposed population suggests a possible genotoxic effect of pesticide exposure. Environ. Mol. Mutagen. 40:101–109, 2002. © 2002 Wiley‐Liss, Inc.

Buccal swab

Sister chromatid exchange

Clastogen

10.1002/em.10100

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Citations (70)

Genomic instability in chronic renal failure patients

Environmental and Molecular Mutagenesis (2012)

Silvia B. Sandoval Susana Pastor Elitsa Stoyanova Lara Rodríguez‐Ribera Wilser Andrés García-Quispes

Abstract Patients suffering chronic renal failure (CRF) exhibit a high incidence of cancer, as well as high levels of genetic damage. We hypothesized that these patients show genomic instability as measured by increased radiosensitivity to the induction of genetic damage. The background levels of genetic damage and the net genetic damage after in vitro irradiation with 0.5 Gy were analyzed using the micronucleus assay in peripheral blood lymphocytes of 174 CRF patients and 53 controls. The net radiation‐induced genetic damage was significantly higher in CRF patients with respect to controls. Among CRF patients, the levels of genetic damage were higher in those with prior incidence of cancer than in those without cancer; in addition, those CRF patients undergoing hemodialysis presented with higher levels of genetic damage than those in the advanced Stages (4–5) of the pathology. A positive association was observed between basal and net micronucleus frequency among CFR patients. However, no association was found between net genetic damage and parameters linked to the different stages of the pathology, such as urine creatinine levels and glomerular filtration rate. Our results indicate that CRF patients show increased radiosensitivity and that the degree of radiosensitivity is associated with the progression of the pathological stage of the disease. Environ. Mol. Mutagen., 2012. © 2012 Wiley Periodicals, Inc.

Radiosensitivity

Genetic predisposition

10.1002/em.21694

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Citations (26)

Possible Role of the WDR3 Gene on Genome Stability in Thyroid Cancer Patients

PLoS ONE (2012)

Wilser Andrés García-Quispes Susana Pastor Pere Galofré Josefina Biarnés Joan Martí i Castell

The role of the WDR3 gene on genomic instability has been evaluated in a group of 115 differentiated thyroid cancer (DTC) patients. Genomic instability has been measured according to the response of peripheral blood lymphocytes to ionizing radiation (0.5 Gy). The response has been measured with the micronucleus (MN) test evaluating the frequency of binucleated cells with MN (BNMN), both before and after the irradiation. No differences between genotypes, for the BNMN frequencies previous the irradiation, were observed. Nevertheless significant decreases in DNA damage after irradiation were observed in individuals carrying the variant alleles for each of the three genotyped SNPs: rs3754127 [−8.85 (−15.01 to −2.70), P<0.01]; rs3765501 [−8.98 (−15.61 to −2.36), P<0.01]; rs4658973 [−8.70 (−14.94 to −2.46), P<0.01]. These values correspond to those obtained assuming a dominant model. This study shows for the first time that WDR3 can modulate genome stability.

Binucleated cells

10.1371/journal.pone.0044288

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Citations (6)

Corrigendum to “Harmful effects of true-to-life nanoplastics derived from PET water bottles in human alveolar macrophages” [Environ. Pollut., 348: 123823 (2024)]

Environmental Pollution (2024)

Alireza Tavakolpournegari A. Villacorta Michelle Morataya-Reyes Jéssica Arribas Arranz Gooya Banaei

10.1016/j.envpol.2024.123996

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Correction: An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility

PLoS ONE (2013)

Papillary Thyroid Cancer (PTC) is a heterogeneous and complex disease; susceptibility to PTC is influenced by the joint effects of multiple common, low-penetrance genes, although relatively few have been identified to date.Here we applied a rigorous combined approach to assess both the individual and epistatic contributions of genetic factors to PTC susceptibility, based on one of the largest series of thyroid cancer cases described to date.In addition to identifying the involvement of TSHR variation in classic PTC, our pioneer study of epistasis revealed a significant interaction between variants in STK17B and PAX8.The interaction was detected by MD-MBR (p = 0.00010) and confirmed by other methods, and then replicated in a second independent series of patients (MD-MBR p = 0.017).Furthermore, we demonstrated an inverse correlation between expression of PAX8 and STK17B in a set of cell lines derived from human thyroid carcinomas.Overall, our work sheds additional light on the genetic basis of thyroid cancer susceptibility, and suggests a new direction for the exploration of the inherited genetic contribution to disease using association studies.

Epistasis

PAX8

10.1371/annotation/cd94c3eb-70f2-4dfa-85be-b3fc41e495c3

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Citations (1)

Are thyroid cancer patients sensitive to ionising radiation?

International Journal of Radiation Biology (2011)

Wilser Andrés García-Quispes Gisselle Pérez-Machado Berenice Sandoval Susana Pastor Antonia Velázquez

Purpose: To determine the ionising radiation sensitivity of peripheral blood lymphocytes in a group of differentiated thyroid cancer (DTC) patients.Material and methods: A total of 53 thyroid cancer patients (26 women and 27 men) and 50 donors (23 women and 27 men) were included in the study. The cytokinesis-block micronucleus assay (CBMN) in G0 peripheral blood lymphocytes was carried out using the cytochalasin B technique. Four cultures were established per each donor, two were irradiated with 0.5 Gy 137Cs g-rays, while the other two remained untreated.Results: No significant differences were observed in the frequency of binucleated cells with micronuclei (BNMN) between patients and controls, for both spontaneous and after the irradiation frequencies. Nevertheless, a positive and significant correlation was found between the frequencies of both spontaneous and after irradiation DNA damage, for control and patient groups.Conclusions: We have found that DTC patients do not present particular sensitivity to ionising radiation when an in vitro treatment is performed in G0 stage of the cell cycle, but this result does not discard the hypothesis about an increased sensitivity in other stages of the cell cycle in DTC patients.

Binucleated cells

Radiosensitivity

Radiation sensitivity

Cytochalasin B

10.3109/09553002.2011.577507

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Citations (2)

The HUman MicroNucleus project on eXfoLiated buccal cells (HUMNXL): The role of life-style, host factors, occupational exposures, health status, and assay protocol

Mutation Research/Reviews in Mutation Research (2011)

Stefano Bonassi Erdem Coşkun Marcello Ceppi Cecilia Lando Claudia Bolognesi

Buccal swab

10.1016/j.mrrev.2011.06.005

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Citations (366)