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Breast cancer genetics in young women: what do we know?
Publication date: Available online 25 August 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Liliana Gómez-Flores-Ramos, Rosa María Álvarez-Gómez, Cynthia Villarreal-Garza, Talia Wegman-Ostrosky, Alejandro Mohar Breast cancer (BC) in young women, generally defined in oncology as women who are 40 years of age or under, represents 2 out of 10 BC cases in developing countries. Several studies, including genetic cancer panel analyses, genome-wide association studies, expression analyses and polymorphism reports, have found that young women with BC exhibit a higher genetic susceptibility and spe...
Source: Mutation Research Reviews in Mutation Research - August 26, 2017 Category: Genetics & Stem Cells Source Type: research

Inflammation and the chemical carcinogen benzo[a]pyrene: partners in crime
Publication date: Available online 24 August 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Q. Shi, R.W.L. Godschalk, F.J.Van Schooten Exposure to benzo[a]pyrene (B[a]P) is known to play a role in lung carcinogenesis and the underlying processes can be modified by the presence of inflammation. The inflammatory process can for instance enhance the concentration of reactive metabolites that bind to DNA and may also diminish DNA repair. Additionally, during the inflammatory process mediators are released that create a microenvironment which is suitable for further stimulation of cancer development....
Source: Mutation Research Reviews in Mutation Research - August 25, 2017 Category: Genetics & Stem Cells Source Type: research

Meta-analysis of chromosomal aberrations as a biomarker of exposure in healthcare workers occupationally exposed to antineoplastic drugs
Publication date: Available online 24 August 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Christine Roussel, Kristine L. Witt, Peter B. Shaw, Thomas H. Connor Many antineoplastic drugs used to treat cancer, particularly alkylating agents and topoisomerase inhibitors, are known to induce genetic damage in patients. Elevated levels of chromosomal aberrations, micronuclei, and DNA damage have been documented in cancer patients. Elevations in these same biomarkers of genetic damage have been reported in numerous studies of healthcare workers, such as nurses and pharmacists, who routinely handle t...
Source: Mutation Research Reviews in Mutation Research - August 24, 2017 Category: Genetics & Stem Cells Source Type: research

The lymphocyte cytokinesis block micronucleus test in human populations occupationally exposed to vinyl chloride: a systematic review and meta-analysis
Publication date: Available online 31 July 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Claudia Bolognesi, Marco Bruzzone, Marcello Ceppi, Micheline Kirsch-Volders Vinyl chloride (VC) is widely used in industry in the production of polyvinyl chloride (PVC), which is used to manufacture a large variety of materials. VC was classified as a known (Group 1) human carcinogen by IARC on the basis of increased risk for liver angiosarcoma and hepatocellular cancer, and the carcinogenicity of VC was shown to be mediated by a genotoxic mechanism. Following inhalation, the compound is rapidly absorbed a...
Source: Mutation Research Reviews in Mutation Research - August 1, 2017 Category: Genetics & Stem Cells Source Type: research

Adaptation of the human population to the environment: Current knowledge, clues from Czech cytogenetic and “omics” biomonitoring studies and possible mechanisms
Publication date: July–September 2017 Source:Mutation Research/Reviews in Mutation Research, Volume 773 Author(s): Andrea Rossnerova, Michaela Pokorna, Vlasta Svecova, Radim J. Sram, Jan Topinka, Friedo Zölzer, Pavel Rossner The human population is continually exposed to numerous harmful environmental stressors, causing negative health effects and/or deregulation of biomarker levels. However, studies reporting no or even positive impacts of some stressors on humans are also sometimes published. The main aim of this review is to provide a comprehensive overview of the last decade of Czech biomonitoring research,...
Source: Mutation Research Reviews in Mutation Research - July 20, 2017 Category: Genetics & Stem Cells Source Type: research

Adaption of the human population to the environment: Current knowledge, clues from Czech cytogenetic and “omics” biomonitoring studies and possible mechanisms
Publication date: Available online 12 July 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Andrea Rossnerova, Michaela Pokorna, Vlasta Svecova, Radim J. Sram, Jan Topinka, Friedo Zölzer, Pavel Rossner The human population is continually exposed to numerous harmful environmental stressors, causing negative health effects and/or deregulation of biomarker levels. However, studies reporting no or even positive impacts of some stressors on humans are also sometimes published. The main aim of this review is to provide a comprehensive overview of the last decade of Czech biomonitoring research, con...
Source: Mutation Research Reviews in Mutation Research - July 13, 2017 Category: Genetics & Stem Cells Source Type: research

DNA mismatch repair and its many roles in eukaryotic cells
Publication date: Available online 9 July 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Dekang Liu, Guido Keijzers, Lene Juel Rasmussen DNA mismatch repair (MMR) is an important DNA repair pathway that plays critical roles in DNA replication fidelity, mutation avoidance and genome stability, all of which contribute significantly to the viability of cells and organisms. MMR is widely-used as a diagnostic biomarker for human cancers in the clinic, and as a biomarker of cancer susceptibility in animal model systems. Prokaryotic MMR is well-characterized at the molecular and mechanistic level; howe...
Source: Mutation Research Reviews in Mutation Research - July 11, 2017 Category: Genetics & Stem Cells Source Type: research

Putative biomarkers for cervical cancer: SNVs, methylation and expression profiles
Publication date: Available online 30 June 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Maria de Fátima Senra Cardoso, Carlos Henrique Madeiros Castelletti, José Luiz de Lima-Filho, Danyelly Bruneska Gondim Martins, José António Couto Teixeira Cervical cancer is primarily caused by Human papillomavirus (HPV) infection, but other factors such as smoking habits, co-infections and genetic background, can also contribute to its development. Although this cancer is avoidable, it is the fourth most frequent type of cancer in females worldwide and can only be treated with chemotherapy and radic...
Source: Mutation Research Reviews in Mutation Research - July 1, 2017 Category: Genetics & Stem Cells Source Type: research

Βeta-catenin N-terminal domain: An enigmatic region prone to cancer causing mutations
Publication date: July–September 2017 Source:Mutation Research/Reviews in Mutation Research, Volume 773 Author(s): Mohd Saleem Dar, Paramjeet Singh, Riyaz A. Mir, Mohd Jamal Dar The Wnt/β-catenin is a highly conserved signaling pathway involved in cell fate decisions during various stages of development. Dysregulation of canonical Wnt/β-catenin signaling has been associated with various diseases including cancer. β-Catenin, the central component of canonical Wnt signaling pathway, is a multi-functional protein playing both structural and signaling roles. β-Catenin is composed of three distinct domains: N-termin...
Source: Mutation Research Reviews in Mutation Research - June 12, 2017 Category: Genetics & Stem Cells Source Type: research

Genotoxicity of metal based engineered nanoparticles in aquatic organisms: a review
Publication date: Available online 4 June 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): N. Mahaye, M. Thwala, D.A. Cowan, N. Musee Engineered nanoparticles (ENPs) are an emerging class of environmental contaminants, but are generally found in very low concentrations and are therefore likely to exert sub-lethal effects on aquatic organisms. In this review, we: (i) highlight key mechanisms of metal-based ENP-induced genotoxicity, (ii) identify key nanoparticle and environmental factors which influence the observed genotoxic effects, and (iii) highlight the challenges involved in interpreting rep...
Source: Mutation Research Reviews in Mutation Research - June 4, 2017 Category: Genetics & Stem Cells Source Type: research

Advances in ligase chain reaction and ligation-based amplifications for genotyping assays: Detection and applications
Publication date: July–September 2017 Source:Mutation Research/Reviews in Mutation Research, Volume 773 Author(s): Abdullah A. Gibriel, Ola Adel Genetic variants have been reported to cause several genetic diseases. Various genotyping assays have been developed for diagnostic and screening purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the late nineties, it became one of the most favored platforms for detecting these variants and also for genotyping low abundant contaminants. Recent and powerful modificat...
Source: Mutation Research Reviews in Mutation Research - May 23, 2017 Category: Genetics & Stem Cells Source Type: research

Significance and Nature of Bystander Responses Induced by Various Agents
Publication date: Available online 21 May 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Neha Verma, Ashu Bhan Tiku Bystander effects in a biological system are the responses shown by non-targeted neighbouring cells/tissues/organisms. These responses are triggered by factors released from targeted cells when exposed to a stress inducing agent. The biological response to stress inducing agents is complex, owing to the diversity of mechanisms and pathways activated in directly targeted and bystander cells. These responses are highly variable and can be either beneficial or hazardous depending on th...
Source: Mutation Research Reviews in Mutation Research - May 21, 2017 Category: Genetics & Stem Cells Source Type: research

Transient and stable vector transfection: pitfalls, off-target effects, artifacts
Publication date: Available online 16 May 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Aleksei A. Stepanenko, Henry H. Heng Transient and stable vector transfections have played important roles in illustrating the function of specific genes/proteins. The general assumption is that such a platform could effectively link a given gene/protein to gained phenotypes, revealing the mechanism of how a gene works. However, in reality, increased studies have surprisingly noticed some unexpected results. In this review, we demonstrate that an assumption that empty vector-transfected cells preserve the cyt...
Source: Mutation Research Reviews in Mutation Research - May 17, 2017 Category: Genetics & Stem Cells Source Type: research

Advances in ligase chain reaction and ligation based amplifications for genotyping assays; detection and applications
Publication date: Available online 2 May 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Abdullah A. Gibriel, Ola Adel Single nucleotide polymorphisms (SNPs) are common genetic variants that have been reported to cause several genetic diseases. Various SNP genotyping screening assays were developed and implemented for diagnostic purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the last decade of the 20th century, it became one of the most favored platforms for SNP genotyping. Recent and ...
Source: Mutation Research Reviews in Mutation Research - May 3, 2017 Category: Genetics & Stem Cells Source Type: research

Interstitial telomeric sequences in vertebrate chromosomes: origin, function, instability and evolution
Publication date: Available online 22 April 2017 Source:Mutation Research/Reviews in Mutation Research Author(s): Alejandro D. Bolzán By definition, telomeric sequences are located at the very ends or terminal regions of chromosomes. However, several vertebrate species show blocks of (TTAGGG)n repeats present in non-terminal regions of chromosomes, the so-called interstitial telomeric sequences (ITSs), interstitial telomeric repeats or interstitial telomeric bands, which include those intrachromosomal telomeric-like repeats located near (pericentromeric ITSs) or within the centromere (centromeric ITSs) and those telome...
Source: Mutation Research Reviews in Mutation Research - April 22, 2017 Category: Genetics & Stem Cells Source Type: research