MutagenesisPub Date : 2025-03-24DOI: 10.1093/mutage/geaf006
Armen Nersesyan, Stefania Proietti, Siegfried Knasmueller, Stefano Bonassi, Michael Fenech
{"title":"High Correlation between Micronuclei in Lymphocytes and Buccal Cells in Humans provides further Validation of their use as Biomarkers of DNA Damage and Cancer Risks in vivo.","authors":"Armen Nersesyan, Stefania Proietti, Siegfried Knasmueller, Stefano Bonassi, Michael Fenech","doi":"10.1093/mutage/geaf006","DOIUrl":"https://doi.org/10.1093/mutage/geaf006","url":null,"abstract":"<p><p>Micronuclei (MN) are cellular structures containing chromosome fragments or whole chromosomes that fail to be incorporated into the main nuclei during mitosis. MN measured in lymphocytes using the cytokinesis-block method and MN in buccal cells are among the most widely used methods for measuring DNA damage in humans. However, it remains unclear whether they correlate well with each other. This has important implications regarding whether existing evidence linking MN in lymphocytes to prospective cancer risk can also be extended to MN in buccal cells, a much less invasive approach. We therefore systematically reviewed results from published studies that reported MN frequencies simultaneously in buccal cells and lymphocytes. Data were extracted from a set of 81 study groups reported in 62 publications. The overall frequency of MN in groups exposed to increased risk of DNA damage was 2.54 times higher compared to controls (95% CI: 2.06-3.01) in buccal cells and 2.43 times higher (95% CI: 1.92-2.93) in lymphocytes. Frequencies of MN in populations investigated for occupational or environmental exposure to genotoxins, various diseases, and poor nutrition/lifestyle were also compared in each study and for each tissue (lymphocytes and buccal mucosa) with frequencies in control subjects using the Mean Ratio (MR). Concordance between the two MN assays was evaluated by comparing MRs for primary exposure in all studies using a correlation analysis. The overall Pearson correlation index was 0.768 (0.877 for case-control studies and 0.998 for intervention studies), showing that MR estimates from the two assays were highly and significantly correlated (p<0.001). The results from this investigation indicate that data obtained using the buccal MN assay reflect results obtained using the lymphocyte cytokinesis-block MN assay. This suggests that the buccal MN assay may also identify those at increased risk of tumorigenesis. Prospective studies will ultimately be required to completely verify this hypothesis.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae014
Michal Eid, Jakub Trizuljak, Renata Taslerova, Martin Gryc, Jakub Vlazny, Sara Vilmanova, Martina Jelinkova, Alena Homolova, Stepan Tucek, Jan Hlavsa, Tomas Grolich, Zdenek Kala, Zdenek Kral, Ondrej Slaby
{"title":"Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.","authors":"Michal Eid, Jakub Trizuljak, Renata Taslerova, Martin Gryc, Jakub Vlazny, Sara Vilmanova, Martina Jelinkova, Alena Homolova, Stepan Tucek, Jan Hlavsa, Tomas Grolich, Zdenek Kala, Zdenek Kral, Ondrej Slaby","doi":"10.1093/mutage/geae014","DOIUrl":"10.1093/mutage/geae014","url":null,"abstract":"<p><p>Multidisciplinary molecular tumor boards (MTB) are already well established in many comprehensive cancer centers and play an important role in the individual treatment planning for cancer patients. Comprehensive genomic profiling of tumor tissue based on next-generation sequencing is currently performed for diagnostic and mainly predictive testing. If somatic genomic variants are identified, which are suspected to be pathogenic germline variants (PGVs), MTB propose genetic counseling and germline DNA testing. Commonly used comprehensive genomic profiling approaches of tumor tissue do not include a matched germline DNA control. Therefore, the detection of PGVs could be only predicted based on the content of tumor cells (CTC) in selected tumor area (%) and variant allele frequency score (%). For conclusion, the role of a medical geneticist is essential in these cases. The overall prevalence of PGVs in patients with pancreatic ductal adenocarcinoma (PDAC) and colorectal cancer (CRC) is approximately 10%. In this single-center study, we present 37 patients with PDAC and 48 patients with CRC who were presented at MTB and tested using the large combined DNA/RNA sequencing panel. Content of tumor cells and variant allele frequency scores were evaluated in all tested patients. In case of suspicion of PGV and no previous genetic testing based on the standard guidelines, genetic counseling was recommended regardless of age, sex, and family history. In the PDAC subgroup, five patients were recommended by MTB for genetic counseling based on suspicious genetic findings. Based on a medical geneticist's decision, germline DNA sequencing was performed in four of these cases, and all of them tested positive for PGV in the following genes: ATM, ATM, BRCA1, and BRCA2. In the CRC subgroup, no PGV was confirmed in the two patients genetically tested based on the MTB recommendations. Furthermore, we present data from our center's registry of patients with PDAC and CRC who underwent genetic counseling and germline DNA testing based on the standard screening criteria. Our data confirm that comprehensive genomic profiling of tumor tissue can identify patients with hereditary forms of PDAC, who could remain unidentified by standard screening for hereditary forms of cancer.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"20-29"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long or short? Telomere length and pancreatic cancer and its precursor lesions, a narrative review.","authors":"Daniele Campa, Alessio Felici, Chiara Corradi, Giulia Peduzzi, Manuel Gentiluomo, Riccardo Farinella, Cosmeri Rizzato","doi":"10.1093/mutage/gead034","DOIUrl":"10.1093/mutage/gead034","url":null,"abstract":"<p><p>Pancreatic ductal adenocarcinoma (PDAC) is the most common and lethal form of pancreatic cancer, with a survival approaching only 11% at 5 years after diagnosis. In the last 15 years, telomere length (TL) measured in leukocyte (LTL) has been studied in relation to PDAC risk. The majority of the studies reported an association between short LTL and increased PDAC risk, but the results are heterogeneous. Genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) in the telomerase reverse transcriptase (TERT) gene as susceptibility loci for PDAC. Polygenic risk scores computed using SNPs associated with LTL have been tested in relation to PDAC susceptibility with various methods and giving contrasting results. The aim of this review is to analyze all publications carried out specifically on LTL, considering LTL measured with qPCR and with genetic proxies, and PDAC risk. Additionally, we will give an overview of the most relevant associations between SNPs in telomere-associated genes and PDAC, to answer the question shorter or longer? Which one of the two is associated with PDAC risk?</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"39-47"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136398280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae008
Hannah B Mandle, Mazda Jenab, Marc J Gunter, Anne Tjønneland, Anja Olsen, Christina C Dahm, Jie Zhang, Pierre-Emmanuel Sugier, Joseph Rothwell, Gianluca Severi, Rudolf Kaaks, Verena A Katzke, Matthias B Schulze, Giovanna Masala, Sabina Sieri, Salvatore Panico, Carlotta Sacerdote, Catalina Bonet, Maria-Jose Sánchez, Pilar Amiano, José María Huerta, Marcela Guevara, Richard Palmqvist, Thyra Löwenmark, Aurora Perez-Cornago, Elisabete Weiderpass, Alicia K Heath, Amanda J Cross, Paolo Vineis, David J Hughes, Veronika Fedirko
{"title":"Inflammation and gut barrier function-related genes and colorectal cancer risk in western European populations.","authors":"Hannah B Mandle, Mazda Jenab, Marc J Gunter, Anne Tjønneland, Anja Olsen, Christina C Dahm, Jie Zhang, Pierre-Emmanuel Sugier, Joseph Rothwell, Gianluca Severi, Rudolf Kaaks, Verena A Katzke, Matthias B Schulze, Giovanna Masala, Sabina Sieri, Salvatore Panico, Carlotta Sacerdote, Catalina Bonet, Maria-Jose Sánchez, Pilar Amiano, José María Huerta, Marcela Guevara, Richard Palmqvist, Thyra Löwenmark, Aurora Perez-Cornago, Elisabete Weiderpass, Alicia K Heath, Amanda J Cross, Paolo Vineis, David J Hughes, Veronika Fedirko","doi":"10.1093/mutage/geae008","DOIUrl":"10.1093/mutage/geae008","url":null,"abstract":"<p><p>Gut barrier dysfunction and related inflammation are known to be associated with the development and progression of colorectal cancer (CRC). We investigated associations of 292 single-nucleotide polymorphisms (SNPs) from 27 genes related to endotoxins/lipopolysaccharide (LPS) sensing and tolerance, mucin synthesis, inflammation, and Crohn's disease with colon and rectal cancer risks. Incident CRC cases (N = 1374; colon = 871, rectum = 503) were matched 1:1 to controls nested within the European Prospective Investigation into Cancer and Nutrition cohort. Previously measured serum concentrations of gut barrier function and inflammation biomarkers (flagellin/LPS-specific immunoglobulins and C-reactive protein [CRP]) were available for a sub-set of participants (Ncases = 1001; Ncontrols = 667). Forty-two unique SNPs from 19 different genes were associated with serum biomarkers at Punadjusted ≤ 0.05 among controls. Among SNPs associated with a gut permeability score, 24 SNPs were in genes related to LPS sensing and mucin synthesis. Nine out of 12 SNPs associated with CRP were in genes related to inflammation or Crohn's disease. TLR4 was associated with colon cancer at the SNP level (nine SNPs, all Punadjusted ≤ 0.04) and at the gene level (Punadjusted ≤ 0.01). TLR4 rs10759934 was associated with rectal cancer but not colon cancer. Similarly, IL10 was associated with rectal cancer risk at an SNP and gene level (both Punadjusted ≤ 0.01), but not colon cancer. Genes and SNPs were selected a priori; therefore, we present unadjusted P-values. However, no association was statistically significant after multiple testing correction. This large and comprehensive study has identified gut barrier function and inflammation-related genes possibly contributing to CRC risk in European populations and is consistent with potential etiological links between host genetic background, gut barrier permeability, microbial endotoxemia, and CRC development.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"48-60"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae029
Safaa Andarawi, Ludmila Vodickova, Anusha Uttarilli, Petr Hanak, Pavel Vodicka
{"title":"Defective DNA repair: a putative nexus linking immunological diseases, neurodegenerative disorders, and cancer.","authors":"Safaa Andarawi, Ludmila Vodickova, Anusha Uttarilli, Petr Hanak, Pavel Vodicka","doi":"10.1093/mutage/geae029","DOIUrl":"10.1093/mutage/geae029","url":null,"abstract":"<p><p>DNA damage is a common event in cells, resulting from both internal and external factors. The maintenance of genomic integrity is vital for cellular function and physiological processes. The inadequate repair of DNA damage results in the genomic instability, which has been associated with the development and progression of various human diseases. Accumulation of DNA damage can lead to multiple diseases, such as neurodegenerative disorders, cancers, immune deficiencies, infertility, and ageing. This comprehensive review delves the impact of alterations in DNA damage response genes (DDR) and tries to elucidate how and to what extent the same traits modulate diverse major human diseases, such as cancer, neurodegenerative diseases, and immunological disorders. DDR is apparently the trait connecting important complex disorders in humans. However, the pathogenesis of the above disorders and diseases are different and lead to divergent consequences. It is important to discover the switch(es) that direct further the pathogenic process either to proliferative, or degenerative diseases. Our understanding of the influence of DNA damage on diverse human disorders may enable the development of the strategies to prevent, diagnose, and treat these diseases. In our article, we analysed publicly available GWAS summary statistics from the NHGRI-EBI GWAS Catalog and identified 12 009 single-nucleotide polymorphisms (SNPs) associated with cancer. Among these, 119 SNPs were found in DDR pathways, exhibiting significant P-values. Additionally, we identified 44 SNPs linked to various cancer types and neurodegenerative diseases (NDDs), including four located in DDR-related genes: ATM, CUX2, and WNT3. Furthermore, 402 SNPs were associated with both cancer and immunological disorders, with two found in the DDR gene RAD51B. This highlights the versatility of the DDR pathway in multifactorial diseases. However, the specific mechanisms that regulate DDR to initiate distinct pathogenic processes remain to be elucidated.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"4-19"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae015
Alessio Naccarati, Mihnea P Dragomir, Sonia Tarallo, Amedeo Gagliardi, Virginia Alberini, Tomas Buchler, Vaclav Liska, Gaetano Gallo, Veronika Vymetalkova, Ludmila Vodickova, Pavel Vodicka, Barbara Pardini, Giulio Ferrero
{"title":"Fecal miRNA profiles in colorectal cancers with mucinous morphology.","authors":"Alessio Naccarati, Mihnea P Dragomir, Sonia Tarallo, Amedeo Gagliardi, Virginia Alberini, Tomas Buchler, Vaclav Liska, Gaetano Gallo, Veronika Vymetalkova, Ludmila Vodickova, Pavel Vodicka, Barbara Pardini, Giulio Ferrero","doi":"10.1093/mutage/geae015","DOIUrl":"10.1093/mutage/geae015","url":null,"abstract":"<p><p>The diagnostic performance of molecular markers in surrogate tissues like stool may be affected by colorectal cancer (CRC) morphological heterogeneity. The mucinous histotype represents a subgroup of CRC with a peculiar molecular program and unfavorable disease progression. However, the percentage of mucinous morphology necessary to define this subtype is still a matter of debate. In this study, we investigated whether stool miRNA profiles of CRC patients differ in patients with mucinous histopathological subtypes compared to non-mucinous cancers. In this respect, we also explored how the stool miRNA signature reported in our previous multicentric study behaves in this histotype. Small-RNA sequencing was performed in fecal and tissue samples of an Italian cohort (n = 172), including 27 CRC with mucinous morphology (mucinous cancers with ≥ 50% mucinous morphology and those with mucinous component ≥ 5% but < 50%), 58 non-mucinous CRC, and 87 colonoscopy-negative controls. Results were compared with fecal miRNA profiles of a cohort from the Czech Republic (n = 98). Most of the differentially expressed (DE) stool miRNAs (n = 324) were in common between CRC with mucinous morphology and non-mucinous histopathological subtypes in comparison with healthy controls. Interestingly, the altered levels of 25 fecal miRNAs previously identified distinguishing CRC cases from controls in both cohorts were also confirmed after stratification for mucinous morphology. Forty-nine miRNAs were DE exclusively in CRC with mucinous morphology and 61 in non-mucinous CRC. Mucinous cancers and those with mucinous component showed fairly similar profiles that were comparable in the Czech cohort. Among the stool DE miRNAs observed in CRC with mucinous morphology, 20 were also altered in the comparison between tumor and adjacent mucosa tissue. This study highlights miRNAs specifically altered in CRC with mucinous morphology. Nevertheless, the performance of our stool miRNA signature in accurately distinguishing CRC cases from controls was not significantly affected by this histological subtype. This aspect further supports the use of stool miRNAs for noninvasive diagnosis and screening strategies.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"71-79"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141284215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae009
Pavel Vodicka, Ludmila Vodickova
{"title":"Commentary: Special Issue: Current Understanding of Colorectal and Pancreatic Cancers.","authors":"Pavel Vodicka, Ludmila Vodickova","doi":"10.1093/mutage/geae009","DOIUrl":"10.1093/mutage/geae009","url":null,"abstract":"","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"1-3"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140326883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-15DOI: 10.1093/mutage/geae006
Kari Hemminki, Yasmeen Niazi, Ludmila Vodickova, Pavel Vodicka, Asta Försti
{"title":"Genetic and environmental associations of nonspecific chromosomal aberrations.","authors":"Kari Hemminki, Yasmeen Niazi, Ludmila Vodickova, Pavel Vodicka, Asta Försti","doi":"10.1093/mutage/geae006","DOIUrl":"10.1093/mutage/geae006","url":null,"abstract":"<p><p>Nonspecific structural chromosomal aberrations (CAs) are found in around 1% of circulating lymphocytes from healthy individuals but the frequency may be higher after exposure to carcinogenic chemicals or radiation. CAs have been used in the monitoring of persons exposed to genotoxic agents and radiation. Previous studies on occupationally exposed individuals have shown associations between the frequency of CAs in peripheral blood lymphocytes and subsequent cancer risk. The cause for CA formation is believed to be unrepaired or insufficiently repaired DNA double-strand breaks or other DNA damage, and additionally telomere shortening. CAs include chromosome (CSAs) and chromatid type aberrations (CTAs). In the present review, we first describe the types of CAs, the conventional techniques used for their detection and some aspects of interpreting the results. We then focus on germline genetic variation in the frequency and type of CAs measured in a genome-wide association study in healthy individuals in relation to occupational and smoking-related exposure compared to nonexposed referents. The associations (at P < 10-5) on 1473 healthy individuals were broadly classified in candidate genes from functional pathways related to DNA damage response/repair, including PSMA1, UBR5, RRM2B, PMS2P4, STAG3L4, BOD1, COPRS, and FTO; another group included genes related to apoptosis, cell proliferation, angiogenesis, and tumorigenesis, COPB1, NR2C1, COPRS, RHOT1, ITGB3, SYK, and SEMA6A; a third small group mapped to genes KLF7, SEMA5A and ITGB3 which were related to autistic traits, known to manifest frequent CAs. Dedicated studies on 153 DNA repair genes showed associations for some 30 genes, the expression of which could be modified by the implicated variants. We finally point out that monitoring of CAs is so far the only method of assessing cancer risk in healthy human populations, and the use of the technology should be made more attractive by developing automated performance steps and incorporating artificial intelligence methods into the scoring.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":"30-38"},"PeriodicalIF":2.5,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-03-11DOI: 10.1093/mutage/geaf007
Shabir Ahmad Rather, Zahoor Ahmad Wani, Rashaid Ali Mustafa, Pooja Bharti, Rukhsana Kousar, Mohammad Vikas Ashraf, Shoeb Ahmad, A A Shah, M A Hannan Khan
{"title":"Carcinogenic parasites: Insights into the epidemiology and possible mechanisms of cancer.","authors":"Shabir Ahmad Rather, Zahoor Ahmad Wani, Rashaid Ali Mustafa, Pooja Bharti, Rukhsana Kousar, Mohammad Vikas Ashraf, Shoeb Ahmad, A A Shah, M A Hannan Khan","doi":"10.1093/mutage/geaf007","DOIUrl":"https://doi.org/10.1093/mutage/geaf007","url":null,"abstract":"<p><p>Naturally, a wide range of genetic and environmental variables predominate, such as bacterial, viral and parasite infective entities that have been identified as carcinogenic bioagents. Many helminth and protozoan parasitic diseases are liable to cause human cancer. Conveniently, three trematode parasites viz. Schistosoma haematobium, Opisthorchis viverrini and Clonorchis sinensis have been reported to be intrinsically linked with human cancer. Similar studies for other parasitic infections are still imprecise and need further validation. Plasmodium falciparum is known to cause holoendemic Burkitt lymphoma despite non-carcinogenic role of malaria. This review is endowed with a coupled correlation and underlying mechanisms by which parasitic infections lead to carcinogenicity. An empirical documentation covering the prevalence and incidence of viral, bacterial and parasitic carcinogenicity is illustrated in this article. Moreover, some probable diagnostic and treatment procedures for parasitic carcinogenicity are also summarized. A detailed account of various mutational and genetic changes that lead to carcinogenesis via different pathways is appended in this article.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MutagenesisPub Date : 2025-02-22DOI: 10.1093/mutage/geaf005
Carlos E Scorza, Aline G Aun, Júlia L Guedes, Maria Vitória Destro, Márjorie A Golim, Leandro G Braz, Mariana G Braz
{"title":"DNA damage, apoptosis and serum inflammatory marker levels, but not white blood cell counts, are related to occupational exposure to waste anesthetic gases during medical residency: a longitudinal study.","authors":"Carlos E Scorza, Aline G Aun, Júlia L Guedes, Maria Vitória Destro, Márjorie A Golim, Leandro G Braz, Mariana G Braz","doi":"10.1093/mutage/geaf005","DOIUrl":"https://doi.org/10.1093/mutage/geaf005","url":null,"abstract":"<p><p>The objective of this longitudinal study was to jointly assess DNA damage, apoptosis, inflammatory marker levels and white blood cell (WBC) counts in physicians occupationally exposed to inhalation anesthetics during specializations. Thus, we aimed to identify a possible cause-effect relationship between occupational exposure to waste anesthetic gases (WAGs), which were measured, and genotoxic, cytotoxic and immunotoxic effects. Nineteen medical residents were evaluated at four time points: before entering medical residency (baseline) and at the beginning, middle and end of medical residency. Peripheral blood mononuclear cells (PBMCs) were investigated for DNA damage, which was detected via the comet assay, and for apoptosis, which was detected via an annexin marker (flow cytometry). High-sensitivity C-reactive protein and serum inflammatory cytokines were evaluated via flow cytometry, and total and differential WBCs were counted. In addition, the concentrations of the WAGs measured in the workplace during the study were evaluated via an infrared spectrophotometer. The WAG concentrations were far higher than the internationally recommended values. Compared with those at previous time points, we observed increased DNA damage (p = 0.008) and apoptosis (p = 0.001) in PBMCs from the middle to the end of medical residency. Significant increases (p < 0.05) in the IL-8, IL-10, IL-12p70, IL-17A, IL-18 and IL-23 levels throughout medical residency were detected. There was no effect on the WBC count (p < 0.05), and all the means were within the reference range values. Occupational exposure to high levels of WAGs induces DNA damage, apoptosis, and changes in serum inflammatory marker levels, but not in leukocyte counts, in physicians who work in surgical theaters lacking an adequate scavenging system during medical residency.</p>","PeriodicalId":18889,"journal":{"name":"Mutagenesis","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}