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Novel insights into the role of ion channels in cellular DNA damage response Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2024-01-22 Kamila Maliszewska-Olejniczak, Piotr Bednarczyk
The DNA damage response (DDR) is a complex and highly regulated cellular process that detects and repairs DNA damage. The integrity of the DNA molecule is crucial for the proper functioning and survival of cells, as DNA damage can lead to mutations, genomic instability, and various diseases, including cancer. The DDR safeguards the genome by coordinating a series of signaling events and repair mechanisms
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The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-12-14 Alaa Abbas, Ayat S Hammad, Mashael Al-Shafai
Background GNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse array of G protein-coupled receptors (GPCRs), including the melanocortin 4 receptor (MC4R) that serves a pivotal role in regulating food intake, energy homoeostasis, and body weight
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Congenital neutropenia: From lab bench to clinic bedside and back Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-11-19 Weronika Dobrewa, Marta Bielska, Katarzyna Bąbol-Pokora, Szymon Janczar, Wojciech Młynarski
Neutropenia is a hematological condition characterized by a decrease in absolute neutrophil count (ANC) in peripheral blood, typically classified in adults as mild (1–1.5 × 109/L), moderate (0.5–1 × 109/L), or severe (< 0.5 × 109/L). It can be categorized into two types: congenital and acquired. Congenital severe chronic neutropenia (SCN) arises from mutations in various genes, with different inheritance
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A comparison between mutational profiles in tumour tissue DNA and circulating tumour DNA in head and neck squamous cell carcinoma – A systematic review Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-11-17 Xiaomin Huang, Paul Leo, Lee Jones, Pascal H.G. Duijf, Gunter Hartel, Lizbeth Kenny, Sarju Vasani, Chamindie Punyadeera
Background Head and neck cancer is the seventh most common malignancy globally. Head and neck squamous cell carcinoma (HNSCC) originates from squamous cells and 90% of HNC are HNSCC. The gold standard for diagnosing HNSCC is tissue biopsy. However, given tumour heterogeneity, biopsies may miss important cancer-associated molecular signatures, and more importantly, after the tumour is excised, there
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Applications of advanced technologies for detecting genomic structural variation Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-11-04 Vincent A. Laufer, Thomas W. Glover, Thomas E. Wilson
Chromosomal structural variation (SV) encompasses a heterogenous class of genetic variants that exerts strong influences on human health and disease. Despite their importance, many structural variants (SVs) have remained poorly characterized at even a basic level, a discrepancy predicated upon the technical limitations of prior genomic assays. However, recent advances in genomic technology can identify
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Towards prevention of aneuploidy-associated cellular senescence and aging: more questions than answers? Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-10-20 Micheline Kirsch-Volders, Michael Fenech
The aim of this review is to discuss how aneuploidy contributes to the aging process, and to identify plausible strategies for its prevention. After an overview of mechanisms leading to aneuploidy and the major features of cellular senescence, we discuss the link between (i) aneuploidy and cellular senescence; (ii) aneuploidy and aging; and (iii) cellular senescence and aging. We also consider (i)
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International workshops on genotoxicity testing (IWGT): Origins, achievements and ambitions Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-28 Hans-Jörg Martus, Andreas Zeller, David Kirkland
Over the past thirty years, the International Workshops on Genotoxicity Testing (IWGT) became one of the leading groups in the field of regulatory genotoxicology, not only due to the diversity of participants with respect to geography and professional affiliation, but also due to the unique setup of recurring IWGT meetings every four years. The hallmarks of the IWGT process have been diligent initial
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Mutagenesis-based plant breeding approaches and genome engineering: A review focused on tomato Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-15 Durre Shahwar, Namju Ahn, Donghyun Kim, Wooseong Ahn, Younghoon Park
Breeding is the most important and efficient method for crop improvement involving repeated modification of the genetic makeup of a plant population over many generations. In this review, various accessible breeding approaches, such as conventional breeding and mutation breeding (physical and chemical mutagenesis and insertional mutagenesis), are discussed with respect to the actual impact of research
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Next-generation sequencing methodologies to detect low-frequency mutations: “Catch me if you can” Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-15 Vijay Menon, Douglas E. Brash
Mutations, the irreversible changes in an organism’s DNA sequence, are present in tissues at a variant allele frequency (VAF) ranging from ∼10-8 per bp for a founder mutation to ∼10-3 for a histologically normal tissue sample containing several independent clones – compared to 1%− 50% for a heterozygous tumor mutation or a polymorphism. The rarity of these events poses a challenge for accurate clinical
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Ecogenotoxicity assessment with land snails: A mini-review Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-09 Maxime Louzon, Annette de Vaufleury, Nicolas Capelli
In the context of the increasing environmental and sanitary crisis, it is accepted that soil pollution can cause health alterations and disturb natural population dynamics. Consequently, the assessment of the genotoxic potential of compounds found in contaminated soils is important. Indeed, the alteration of genomic integrity may increase the risk of cancer development and may impair reproduction and
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Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-09 Carla Talita Azevedo Ginani, Jefferson Romáryo Duarte da Luz, Kleyton Santos de Medeiros, Ayane Cristine Alves Sarmento, Fabio Coppedè, Maria das Graças Almeida
Background Several studies around the world support the hypothesis that genetic polymorphisms involved in folate metabolism could be related to the maternal risk for Down syndrome (DS). Most of them investigated the role of MTHFR C677T and/or A1298C polymorphisms as maternal risk factors for DS, but their results are often conflicting and still inconclusive. Methods We conducted a systematic review
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Exposure to nanoplastic particles and DNA damage in mammalian cells Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-09-04 Peter Møller, Martin Roursgaard
There is concern about human exposure to nanoplastics from intentional use or degradation of plastics in the environment. This review assesses genotoxic effects of nanoplastics, defined as particles with a primary size of less than 1000 nm. The majority of results on genotoxicity come from studies on polystyrene (PS) particles in mammalian cell cultures. Most studies have measured DNA strand breaks
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Systematic review of comparative transcriptomic studies of cellular resistance to genotoxic stress Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-08-30 Z.B. Ismailov, E.S. Belykh, A.A. Chernykh, A.M. Udoratina, D.V. Kazakov, A.V. Rybak, S.N. Kerimova, I.O. Velegzhaninov
The development of resistance by tumor cells to various types of therapy is a significant problem that decreases the effectiveness of oncology treatments. For more than two decades, comparative transcriptomic studies of tumor cells with different sensitivities to ionizing radiation and chemotherapeutic agents have been conducted in order to identify the causes and mechanisms underlying this phenomenon
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Error-corrected next generation sequencing – Promises and challenges for genotoxicity and cancer risk assessment Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-08-27 Francesco Marchetti, Renato Cardoso, Connie L. Chen, George R. Douglas, Joanne Elloway, Patricia A. Escobar, Tod Harper, Robert H. Heflich, Darren Kidd, Anthony M. Lynch, Meagan B. Myers, Barbara L. Parsons, Jesse J. Salk, Raja S. Settivari, Stephanie L. Smith-Roe, Kristine L. Witt, Carole L. Yauk, Robert Young, Shaofei Zhang, Sheroy Minocherhomji
Error-corrected Next Generation Sequencing (ecNGS) is rapidly emerging as a valuable, highly sensitive and accurate method for detecting and characterizing mutations in any cell type, tissue or organism from which DNA can be isolated. Recent mutagenicity and carcinogenicity studies have used ecNGS to quantify drug-/chemical-induced mutations and mutational spectra associated with cancer risk. ecNGS
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WNT5A: a double-edged sword in colorectal cancer progression Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-07-24 Muhammad Tufail, Changxin Wu
The Wnt signaling pathway is known to play a crucial role in cancer, and WNT5A is a member of this pathway that binds to the Frizzled (FZD) and Receptor Tyrosine Kinase-Like Orphan Receptor (ROR) family members to activate non-canonical Wnt signaling pathways. The WNT5A pathway is involved in various cellular processes, such as proliferation, differentiation, migration, adhesion, and polarization.
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Use of the single cell gel electrophoresis assay for the detection of DNA-protective dietary factors: Results of human intervention studies Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-04-07 Miroslav Mišík, Marlen Staudinger, Michael Kundi, Nadine Worel, Armen Nersesyan, Franziska Ferk, Maria Dusinska, Amaya Azqueta, Peter Møller, Siegfried Knasmueller
The single cell gel electrophoresis technique is based on the measurement of DNA migration in an electric field and enables to investigate via determination of DNA-damage the impact of foods and their constituents on the genetic stability. DNA-damage leads to adverse effects including cancer, neurodegenerative disorders and infertility. In the last 25 years approximately 90 human intervention trials
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Predicting mutational function using machine learning Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-03-23 Anthony Shea, Josh Bartz, Lei Zhang, Xiao Dong
Genetic variations are one of the major causes of phenotypic variations between human individuals. Although beneficial as being the substrate of evolution, germline mutations may cause diseases, including Mendelian diseases and complex diseases such as diabetes and heart diseases. Mutations occurring in somatic cells are a main cause of cancer and likely cause age-related phenotypes and other age-related
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Variations in genomic regions encoding long non-coding RNA genes associated with increased prostate cancer risk Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-03-21 Esra Bozgeyik
From a single restriction fragment length polymorphism analysis to next generation sequencing analysis that screens the entire human genome, testing for genomic variations provides a great and robust approach to cancer testing. Non-coding RNAs have been shown to have a major impact on the development and progression of human cancers, including prostate cancer. However, the low stability of these molecules
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The cell transformation assay to assess potential carcinogenic properties of nanoparticles Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-03-16 Ruzanna Hayrapetyan, Théo Lacour, Annette Luce, Francis Finot, Marie-Christine Chagnon, Isabelle Séverin
Nanoparticles (NPs) are present in many daily life products with particular physical-chemical properties (size, density, porosity, geometry …) giving very interesting technological properties. Their use is continuously growing and NPs represent a new challenge in terms of risk assessment, consumers being multi-exposed. Toxic effects have already been identified such as oxidative stress, genotoxicity
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Empirical relationship between chromosomal damage and airborne particulate matter: A systematic review and meta-analysis of studies in exposed populations Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-02-12 Francisco Carlos da Silva Junior, Leticya Pinto de Araújo, João Paulo de Mendonça Freitas, Nilmara de Oliveira Alves, Stefano Bonassi, Silvia Regina Batistuzzo de Medeiros
Ambient particulate matter (PM) has gained significant attention as an environmental risk factor for human health. Although the association between ambient PM and micronucleus (MN) induction has been investigated, the quantitative association of PM and genomic instability is inconclusive. We conducted a systematic review and meta-analysis to study the association between PM exposure and MN endpoint
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Insights into the potential carcinogenicity of micro- and nano-plastics Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2023-02-02 Josefa Domenech, Balasubramanyam Annangi, Ricard Marcos, Alba Hernández, Julia Catalán
There is a growing concern regarding the potential health effects that continuous exposure to environmental micro- and nano-plastics (MNPLs) may cause on humans. Due to their persistent nature, MNPLs may accumulate in different organs and tissues and may induce in the long term the development of cancer. The present study aimed to review the existing literature on the carcinogenic potential of MNPLs
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Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Bruno César Feltes
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Recurrent driver mutations in benign tumors Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Carolina Cavalieri Gomes
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DNA damage, DNA repair and carcinogenicity: Tobacco smoke versus electronic cigarette aerosol Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Moon-shong Tang,Hyun-Wook Lee,Mao-wen Weng,Hsiang-Tsui Wang,Yu Hu,Lung-Chi Chen,Sung-Hyun Park,Huei-wei Chan,Jiheng Xu,Xue-Ru Wu,He Wang,Rui Yang,Karen Galdane,Kathryn Jackson,Annie Chu,Elizabeth Halzack
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Recommendations and quality criteria for micronucleus studies with humans Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 A. Nersesyan,M. Kundi,M. Fenech,H. Stopper,J. da Silva,C. Bolognesi,M. Mišík,S. Knasmueller
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Epigenetic alterations induced by genotoxic occupational and environmental human chemical carcinogens: An update of a systematic literature review Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Samantha Goodman,Grace Chappell,Kathryn Z. Guyton,Igor P. Pogribny,Ivan Rusyn
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XPC multifaceted roles beyond DNA damage repair: p53-dependent and p53-independent functions of XPC in cell fate decisions Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Abir Zebian,Maya El-Dor,Abdullah Shaito,Frédéric Mazurier,Hamid Reza Rezvani,Kazem Zibara
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Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Olivia Solomon,Karen Huen,Paul Yousefi,Leanne K. Küpers,Juan R. González,Matthew Suderman,Sarah E. Reese,Christian M. Page,Olena Gruzieva,Peter Rzehak,Lu Gao,Kelly M. Bakulski,Alexei Novoloaca,Catherine Allard,Irene Pappa,Maria Llambrich,Marta Vives,Dereje D. Jima,Tuomas Kvist,Andrea Baccarelli,Cory White,Faisal I. Rezwan,Gemma C. Sharp,Gwen Tindula,Anna Bergström,Veit Grote,John F. Dou,Elena Isaevska
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Genotoxicity evaluation of medical devices: A regulatory perspective Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Tirukalikundram S. Kumaravel,Tiruvathipuram N. Sathya,Ramalingam Balaje,Pitchaipillai Pradeepa,Desikan Yogaraj,Malliga R. Murali,K.R. Navaneethakrishnan,Sivasubramanian Murugan,Awadhesh N. Jha
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Molecular characterization of hypoxanthine guanine phosphoribosyltransferase mutant T cells in human blood: The concept of surrogate selection for immunologically relevant cells Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Noah A. Kaitz,Cindy L. Zuleger,Peng Yu,Michael A. Newton,Richard J. Albertini,Mark R. Albertini
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Circadian effects on UV-induced damage and mutations Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Donna Goodenow,Adam J. Greer,Sean J. Cone,Shobhan Gaddameedhi
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The potential role of COVID-19 in the induction of DNA damage Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2022-01-01 Pablo Pánico,Patricia Ostrosky-Wegman,Ana María Salazar
The coronavirus disease-2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is challenging global health and economic systems. In some individuals, COVID-19 can cause a wide array of symptoms, affecting several organs, such as the lungs, heart, bowels, kidneys and brain, causing multiorgan failure, sepsis and death. These effects are related in part to direct
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Fetomaternal microchimerism and genetic diagnosis: On the origins of fetal cells and cell-free fetal DNA in the pregnant woman. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-11-18 Margit Rosner,Thomas Kolbe,Markus Hengstschläger
During pregnancy several types of fetal cells and fetal stem cells, including pregnancy-associated progenitor cells (PAPCs), traffic into the maternal circulation. Whereas they also migrate to various maternal organs and adopt the phenotype of the target tissues to contribute to regenerative processes, fetal cells also play a role in the pathogenesis of maternal diseases. In addition, cell-free fetal
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Application of the comet assay for the evaluation of DNA damage in mature sperm. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-11-09 Goran Gajski,Sanda Ravlić,Roger Godschalk,Andrew Collins,Maria Dusinska,Gunnar Brunborg
DNA integrity is considered an important parameter of semen quality and is of significant value as a predictor of male fertility. Currently, there are several methods that can assess sperm DNA integrity. One such assay is the comet assay, or single-cell gel electrophoresis, which is a simple, sensitive, reliable, quick and low-cost technique that is used for measuring DNA strand breaks and repair at
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Systematic overview on the most widespread techniques for inducing and visualizing the DNA double-strand breaks. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-10-29 Ivett Berzsenyi,Vasiliki Pantazi,Barbara N Borsos,Tibor Pankotai
DNA double-strand breaks (DSBs) are one of the most frequent causes of initiating cancerous malformations, therefore, to reduce the risk, cells have developed sophisticated DNA repair mechanisms. These pathways ensure proper cellular function and genome integrity. However, any alteration or malfunction during DNA repair can influence cellular homeostasis, as improper recognition of the DNA damage or
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Launching the "Projections" series in mutation research reviews with a special issue on next generation sequencing. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-09-14 Catherine B Klein,Barbara L Parsons
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Genotoxicity of multi-walled carbon nanotube reference materials in mammalian cells and animals. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-08-21 Peter Møller,Regitze Sølling Wils,Emilio Di Ianni,Claudia Andrea Torero Gutierrez,Martin Roursgaard,Nicklas Raun Jacobsen
Carbon nanotubes (CNTs) were the first nanomaterials to be evaluated by the International Agency for Research on Cancer (IARC). The categorization as possibly carcinogenic agent to humans was only applicable to multi-walled carbon nanotubes called MWCNT-7. Other types of CNTs were not classifiable because of missing data and it was not possible to pinpoint unique CNT characteristics that cause cancer
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A molecular genetics view on Mucopolysaccharidosis Type II. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-08-08 Shalja Verma,Supansa Pantoom,Janine Petters,Anand Kumar Pandey,Andreas Hermann,Jan Lukas
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene. The mutations cause a loss of enzymatic performance and result in the accumulation of glycosaminoglycans
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Genetic polymorphisms on the effectiveness or safety of breast cancer treatment: Clinical relevance and future perspectives. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-07-17 Yasmin Cura,Cristina Pérez Ramírez,Almudena Sánchez Martín,Fernando Martínez Martínez,Miguel Ángel Calleja Hernández,María Del Carmen Ramírez Tortosa,Alberto Jiménez Morales
Breast cancer (BC) is the most frequent neoplasm and one of the main causes of death in women. The pharmacological treatment of BC consists of hormonal therapy, chemotherapeutic agents and targeted therapy. The response to BC therapy is highly variable in clinical practice. This variability can be explained by the presence of genetic polymorphisms in genes involved in the pharmacokinetics, pharmacodynamics
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Roadmap for translating results from the micronucleus assay into clinical practice: From observational studies to randomized controlled trials. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-07-07 Stefano Bonassi,Michael Fenech
According to the definition delivred by the WHO, a biomarker, independently from its role that may be indicative of exposure, response or effect, is inevitably linked to a clinical outcome or to a disease. The presence of a continuum from early biological events to therapy, and prognosis is the unifying mechanism that justifies this conclusion. Traditionally, the technical and inter-individual variability
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Loss of Y chromosome: An emerging next-generation biomarker for disease prediction and early detection? Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-07-05 Xihan Guo,Jianfei Li,Jinglun Xue,Michael Fenech,Xu Wang
As human life expectancy increases substantially and aging is the primary risk factor for most chronic diseases, there is an urgent need for advancing the development of post-genomic era biomarkers that can be used for disease prediction and early detection (DPED). Mosaic loss of Y chromosome (LOY) is the state of nullisomy Y in sub-groups of somatic cells acquired from different post-zygotic development
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Evaluation of DNA double-strand break repair capacity in human cells: Critical overview of current functional methods. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-06-25 Xavier Tatin,Giovanna Muggiolu,Sylvie Sauvaigo,Jean Breton
DNA double-strand breaks (DSBs) are highly deleterious lesions, responsible for mutagenesis, chromosomal translocation or cell death. DSB repair (DSBR) is therefore a critical part of the DNA damage response (DDR) to restore molecular and genomic integrity. In humans, this process is achieved through different pathways with various outcomes. The balance between DSB repair activities varies depending
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How can exposure to engineered nanomaterials influence our epigenetic code? A review of the mechanisms and molecular targets. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-06-12 Luciana Moreira,Carla Costa,Joana Pires,João Paulo Teixeira,Sónia Fraga
Evidence suggests that engineered nanomaterials (ENM) can induce epigenetic modifications. In this review, we provide an overview of the epigenetic modulation of gene expression induced by ENM used in a variety of applications: titanium dioxide (TiO2), silver (Ag), gold (Au), silica (SiO2) nanoparticles and carbon-based nanomaterials (CNM). Exposure to these ENM can trigger alterations in cell patterns
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Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-06-10 Stacy Colaco,Anita Nadkarni
There is inconsistency in the exact definition of diagnostic levels of HbA2 for β thalassemia trait. While many laboratories consider HbA2 ≥4.0 % diagnostic, still others consider HbA2 ≥3.3 % or HbA2 ≥3.5 % as the cut-off for establishing β thalassemia carrier diagnosis. This is because, over the years, studies have described β thalassemia carriers showing HbA2 levels that lie above the normal range
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Genetic predisposition to lymphomas: Overview of rare syndromes and inherited familial variants. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-06-07 Bartosz Szmyd,Wojciech Mlynarski,Agata Pastorczak
Approximately 10 % of malignancies occur in carriers of germline mutations predisposing to cancer. A high risk of developing lymphomas has been noted in many primary immunodeficiencies, including DNA repair disorders. Moreover, implementation of next-generation sequencing has recently enabled to uncover rare genetic variants predisposing patients to lymphoid neoplasms. Some patients harboring inherited
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"Micronuclei and Disease" special issue: Aims, scope, and synthesis of outcomes. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-06-05 Michael Fenech,Siegfried Knasmueller,Lisbeth E Knudsen,Micheline Kirsch-Volders,Permal Deo,Bernhard Franzke,Helga Stopper,Maria-Grazia Andreassi,Claudia Bolognesi,Varinderpal S Dhillon,Blanca Laffon,Karl-Heinz Wagner,Stefano Bonassi
The purpose of the "Micronuclei and Disease" special issue (SI) is to: (i) Determine the level of evidence for association of micronuclei (MN), a biomarker of numerical and structural chromosomal aberrations, with risk of specific diseases in humans; (ii) Define plausible mechanisms that explain association of MN with each disease; (iii) Identify knowledge gaps and research needed to translate MN assays
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WITHDRAWN: Plans for the Reflections feature in Mutation Research Reviews Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-05-01 George R. Hoffmann
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Mitotic syndicates Aurora Kinase B (AURKB) and mitotic arrest deficient 2 like 2 (MAD2L2) in cohorts of DNA damage response (DDR) and tumorigenesis. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-04-24 Rahaba Marima,Rodney Hull,Clement Penny,Zodwa Dlamini
Aurora Kinase B (AURKB) and Mitotic Arrest Deficient 2 Like 2 (MAD2L2) are emerging anticancer therapeutic targets. AURKB and MAD2L2 are the least well studied members of their protein families, compared to AURKA and MAD2L1. Both AURKB and MAD2L2 play a critical role in mitosis, cell cycle checkpoint, DNA damage response (DDR) and normal physiological processes. However, the oncogenic roles of AURKB
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CD44 polymorphisms and its variants, as an inconsistent marker in cancer investigations. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-03-26 Mohammad Mahmoudi Gomari,Marziye Farsimadan,Neda Rostami,Zahra Mahmoudi,Mahmood Fadaie,Ibrahim Farhani,Parastoo Tarighi
Among cell surface markers, CD44 is considered the main marker for identifying and isolating the cancer stem cells (CSCs) among other cells and has attracted significant attention in a variety of research areas. Many studies have shown the essential roles of CD44 in initiation, metastasis, and tumorigenesis in different types of cancer; however, the validity of CD44 as a therapeutic or diagnostic target
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Orofacial clefts embryology, classification, epidemiology, and genetics. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-02-28 Ghenwa Nasreddine,Joelle El Hajj,Michella Ghassibe-Sabbagh
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations. They are classified as cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). OFCs have significant psychological and socio-economic impact on patients and their families and require a multidisciplinary
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The hCOMET project: International database comparison of results with the comet assay in human biomonitoring. Baseline frequency of DNA damage and effect of main confounders. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-02-06 Mirta Milić,Marcello Ceppi,Marco Bruzzone,Amaya Azqueta,Gunnar Brunborg,Roger Godschalk,Gudrun Koppen,Sabine Langie,Peter Møller,João Paulo Teixeira,Avdulla Alija,Diana Anderson,Vanessa Andrade,Cristina Andreoli,Fisnik Asllani,Ezgi Eyluel Bangkoglu,Magdalena Barančoková,Nursen Basaran,Elisa Boutet-Robinet,Annamaria Buschini,Delia Cavallo,Cristiana Costa Pereira,Carla Costa,Solange Costa,Juliana Da
The alkaline comet assay, or single cell gel electrophoresis, is one of the most popular methods for assessing DNA damage in human population. One of the open issues concerning this assay is the identification of those factors that can explain the large inter-individual and inter-laboratory variation. International collaborative initiatives such as the hCOMET project - a COST Action launched in 2016
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Association between glycation biomarkers, hyperglycemia, and micronucleus frequency: A meta -analysis. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-29 Permal Deo,Michael Fenech,Varinderpal S Dhillon
Micronucleus assay has been used as a biomarker of DNA damage, chromosomal instability, cancer risk and accelerated aging. In this review, a meta-analysis was performed to assess the association between micronuclei (MNi) and diseases with increased advanced glycation end products (AGEs) and HbA1c. The review identified eight studies with 632 subjects with disease and 547 controls. The Mean Ratio (MRi)
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Role of epigenetic mechanisms in propagating off-targeted effects following radiation based therapies - A review. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-28 Swati,Vijayta D Chadha
Despite being an important diagnostic and treatment modality, ionizing radiation (IR) is also known to cause genotoxicity and multiple side effects leading to secondary carcinogenesis. While modern cancer radiation therapy has improved patient recovery and enhanced survival rates, the risk of radiation-related adverse effects has become a growing challenge. It is now well-accepted that IR-induced side
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Impact of dietary and lifestyle interventions in elderly or people diagnosed with diabetes, metabolic disorders, cardiovascular disease, cancer and micronutrient deficiency on micronuclei frequency - A systematic review and meta-analysis. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-20 Karl-Heinz Wagner,Lukas Schwingshackl,Agnes Draxler,Bernhard Franzke
Chronic diseases such as cardiovascular diseases, type 2 diabetes or cancer are the global leading cause of mortality. Lifestyle interventions are most effective in reducing metabolic risk factors, disease progression or even side effects of a disease. They are also contributing to decelerate the aging process. Genome instability is very often associated with aging or the above-mentioned diseases,
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External modulators and redox homeostasis: Scenario in radiation-induced bystander cells. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-20 Sharmi Mukherjee,Anindita Dutta,Anindita Chakraborty
Redox homeostasis is imperative to maintain normal physiologic and metabolic functions. Radiotherapy disturbs this balance and induces genomic instability in diseased cells. However, radiation-induced effects propagate beyond the targeted cells, affecting the adjacent non-targeted cells (bystander effects). The cellular impact of radiation, thus, encompasses both targeted and non-targeted effects.
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The pathways related to glutamine metabolism, glutamine inhibitors and their implication for improving the efficiency of chemotherapy in triple-negative breast cancer. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-18 Soheila Delgir,Milad Bastami,Khandan Ilkhani,Asma Safi,Farhad Seif,Mohammad Reza Alivand
Breast cancer (BC) is a heterogeneous cancer with multiple subtypes affecting women worldwide. Triple-negative breast cancer (TNBC) is a prominent subtype of BC with poor prognosis and an aggressive phenotype. Recent understanding of metabolic reprogramming supports its role in the growth of cancer cells and their adaptation to their microenvironment. The Warburg effect is characterized by the shift
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A review of the genotoxicity of the industrial chemical cumene. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-05 B Bhaskar Gollapudi,Amy L Williams,James S Bus
The purpose of this review is to evaluate the literature on the genotoxicity of cumene (CAS # 98-82-8) and to assess the role of mutagenicity, if any, in the mode of action for cumene-induced rodent tumors. The studies reviewed included microbial mutagenicity, DNA damage/ repair, cytogenetic effects, and gene mutations. In reviewing these studies, attention was paid to their conformance to applicable
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Micronuclei, reproduction and child health Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2021-01-01 Lisbeth E. Knudsen,Micheline Kirsch-Volders
The current review looks for relationships between results from biomarker studies with micronucleus and health effects related to reproduction and children. In adults, an age related increase in MN is well known as well as associations with environmental exposures especially air pollution from traffic and smoking. Literature searches in PubMED and SCOPUS were performed with the following keywords reproduction
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Bruce Nathan Ames - Paradigm shifts inside the cancer research revolution. Mutat. Res. Rev. Mutat. Res. (IF 5.3) Pub Date : 2020-12-31 Carr J Smith,Thomas A Perfetti,Sir Colin Berry,Douglas E Brash,James Bus,Edward Calabrese,Roger A Clemens,John R Jack Fowle,Helmut Greim,James T MacGregor,Robert Maronpot,Peter Pressman,Errol Zeiger,A Wallace Hayes
Dr. Bruce Ames turned 92 on December 16, 2020. He considers his most recent work linking adequate consumption of 30 known vitamins and minerals with successful aging to be his most important contribution. With the passage of time, it is not uncommon for the accomplishments of a well-known scientist to undergo a parsimonious reductionism in the public mind - Pasteur's vaccine, Mendel's peas, Pavlov's