XPC beyond nucleotide excision repair and skin cancers
Publication date: Available online 8 July 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Abir Zebian, Abdullah Shaito, Frédéric Mazurier, Hamid Reza Rezvani, Kazem ZibaraAbstractXeroderma pigmentosum group C (XPC) has been known as a DNA damage recognition factor of bulky adducts and as an initiator of global genome nucleotide excision repair (GG-NER). XP-C patients have been shown to have a predisposition to develop skin and certain internal cancers. Recent studies have shown that XPC presents several functional and molecular interactions with fundamental players in several other DNA repair pathway...
Source: Mutation Research Reviews in Mutation Research - July 8, 2019 Category: Genetics & Stem Cells Source Type: research

Trapping of dna radicals with the nitrone spin trap 5,5-dimethyl-1-pyrroline n-oxide and genotoxic damage: recent advances using immuno-spin trapping technology
Publication date: Available online 5 July 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Sandra E. Gomez-Mejiba, Dario C. RamirezAbstractImmuno-spin trapping detection of DNA radicals with the nitrone spin trap 5,5-dimethyl-1-pyrrloine N-oxide (DMPO) has made important contributions towards the understanding of DNA radicalization and genotoxicity at sites of inflammation. At sites of inflammation, one-electron oxidants and chloramines decay induce oxidation of genomic DNA, genotoxicity and cell transformation. Radicalization of DNA can result in either single- or double-strand breaks, or end-oxidation...
Source: Mutation Research Reviews in Mutation Research - July 6, 2019 Category: Genetics & Stem Cells Source Type: research

Emerging confluences of epigenetics and DNA repair in cancer and disease
Publication date: Available online 13 June 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Catherine B. Klein (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - June 13, 2019 Category: Genetics & Stem Cells Source Type: research

Tobacco carcinogens and the methionine metabolism in human bladder cancer
Publication date: Available online 4 June 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): A. Wojtczyk-Miaskowska, B SchlichtholzAbstractCigarette smoking is a strong risk factor for bladder cancer. It has been shown that the duration of smoking is associated with a poor prognosis and a higher risk of recurrence. This is due to tobacco carcinogens forming adducts with DNA and proteins that participate in the DNA repair mechanisms. Additionally, polymorphisms of genes responsible for methyl group transfer in the methionine cycle and dosages of vitamins (from diet and supplements) can cause an increased r...
Source: Mutation Research Reviews in Mutation Research - June 6, 2019 Category: Genetics & Stem Cells Source Type: research

Twenty Years of Reflections in Mutation Research
Publication date: Available online 23 May 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): George R. HoffmannAbstractReflections is a component of Mutation Research Reviews devoted to historical and philosophical themes pertaining to the subject of mutation. Reflections was initiated in 1999 and has included a broad array of topics centered on mutation research, but overlapping other scientific fields and touching upon history, sociology, politics, philosophy and ethics. This commentary offers an editor's reflections on the 44 papers in the Reflections series, including the people who contributed to the...
Source: Mutation Research Reviews in Mutation Research - May 24, 2019 Category: Genetics & Stem Cells Source Type: research

The role of miRNAs as biomarkers in prostate cancer
Publication date: Available online 22 May 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): J.M. Cozar, I. Robles-Fernandez, A. Rodriguez-Martinez, I. Puche-Sanz, F. Vazquez-Alonso, J.A. Lorente, L.J. Martinez-Gonzalez, M.J. Alvarez-CuberoAbstractThere is an urged need of non-invasive biomarkers for the implementation of precision medicine. These biomarkers are required to these days for improving prostate cancer (PCa) screening, treatment or stratification in current clinical strategies. There are several commercial kits (Oncotype DX genomic prostate score®, Prolaris®, among others) that use genomic c...
Source: Mutation Research Reviews in Mutation Research - May 23, 2019 Category: Genetics & Stem Cells Source Type: research

Diagnostic and prognostic impact of cell-free DNA in human cancers: systematic review
Publication date: Available online 11 May 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Klara Cervena, Pavel Vodicka, Veronika VymetalkovaAbstractThe development of minimally invasive and low-cost assay enabling early diagnosis, treatment response and prognosis in cancer patients may provide a promising alternative to tumor biopsy. Circulating cell-free DNA (cfDNA) is probably the most promising tool among all components of liquid biopsy. This review includes studies exploring cfDNA as the diagnostic, prognostic or predictive biomarker for all types of cancer. In this article, we systematically revie...
Source: Mutation Research Reviews in Mutation Research - May 13, 2019 Category: Genetics & Stem Cells Source Type: research

The significance of gene mutations across eight major cancer types
Publication date: Available online 4 May 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Prosenjit Paul, Arup Kumar Malakar, Supriyo ChakrabortyAbstractMutations occur spontaneously, which can be induced by either chemicals (e.g. benzene) or biological factors (e.g. virus). Not all mutations cause noticeable changes in cellular functions. However, mutation in key cellular genes leads to developmental disorders. It is one of the main ways in which proto-oncogenes can be changed into their oncogenic state. The progressive accumulation of multiple mutations throughout life leads to cancer. In the past few...
Source: Mutation Research Reviews in Mutation Research - May 5, 2019 Category: Genetics & Stem Cells Source Type: research

The role of bracken fern illudanes in bracken fern-induced toxicities
Publication date: Available online 4 May 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): P.J. O’Connor, M.E. Alonso-Amelot, S.A. Roberts, A.C. PoveyAbstractBracken fern is carcinogenic when fed to domestic and laboratory animals inducing bladder and ileal tumours and is currently classified as a possible human carcinogen by IARC. The carcinogenic illudane, ptaquiloside (PTQ) was isolated from bracken fern and is widely assumed to be the major bracken carcinogen. However, several other structurally similar illudanes are found in bracken fern, in some cases at higher levels than PTQ and so may contribu...
Source: Mutation Research Reviews in Mutation Research - May 4, 2019 Category: Genetics & Stem Cells Source Type: research

DNA repair as a human biomonitoring tool: Comet assay approaches
In conclusion, although comet assay based approaches to measure BER/NER phenotypes are feasible and promising, more work is needed to further optimize their application in human biomonitoring and intervention studies. (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - May 1, 2019 Category: Genetics & Stem Cells Source Type: research

Functional genomics applications and therapeutic implications in sarcopenia
Publication date: Available online 20 April 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Aicha Melouane, Abdelaziz Ghanemi, Mayumi Yoshioka, Jonny St-AmandAbstractIt is well known that the human genome contains around 100,000 genes coding for 30,000 proteins. Some proteins represent therapeutic targets for human diseases. RNA and protein expression profiling tools allow the study of the molecular basis of aging and drug discovery validation. Age-related physiological and disease-related muscle decline progressively throughout the life. Sarcopenia is defined as a loss of muscle mass and a decrease in...
Source: Mutation Research Reviews in Mutation Research - April 22, 2019 Category: Genetics & Stem Cells Source Type: research

The comet assay in animal models: From bugs to whales – (Part 2 Vertebrates)
Publication date: Available online 20 April 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Goran Gajski, Bojana Žegura, Carina Ladeira, Matjaž Novak, Monika Sramkova, Bertrand Pourrut, Cristian Del Bo’, Mirta Milić, Kristine Bjerve Gutzkow, Solange Costa, Maria Dusinska, Gunnar Brunborg, Andrew CollinsAbstractThe comet assay has become one of the methods of choice for the evaluation and measurement of DNA damage. It is sensitive, quick to perform and relatively affordable for the evaluation of DNA damage and repair at the level of individual cells. The comet assay can be applied to virtually any ...
Source: Mutation Research Reviews in Mutation Research - April 20, 2019 Category: Genetics & Stem Cells Source Type: research

Impact of single nucleotide polymorphisms on the efficacy and toxicity of egfr tyrosine kinase inhibitors in advanced non-small cell lung cancer patients
Publication date: Available online 9 April 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Miguel Ángel Molina, José Cabeza Barrera, María José Faus-DáderABSTRACTEGFR tyrosine kinase inhibitors (EGFR-TKIs) are the treatment of choice for advanced-stage (IIIB-IV) NSCLC patients with mutations in EGFR. However, EGFR-TKIs clinical outcomes vary from person to person and these inter-individual differences may be due to genetic factors such as single nucleotide polymorphisms (SNPs). SNPs in genes involved in in EGFR-TKIs pharmacodynamics, metabolism and ...
Source: Mutation Research Reviews in Mutation Research - April 10, 2019 Category: Genetics & Stem Cells Source Type: research

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
Publication date: Available online 23 March 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Aquiles Sales Craveiro Sarmento, Leonardo Capistrano Ferreira, Josivan Gomes de Lima, Lázaro Batista de Azevedo Medeiros, Patrícia Tainá Barbosa Cunha, Lucymara Fassarella Agnez-Lima, Marcela Abbott Galvão Ururahy, Julliane Tamara Araújo de Melo CamposAbstractBerardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different bio...
Source: Mutation Research Reviews in Mutation Research - March 24, 2019 Category: Genetics & Stem Cells Source Type: research

Micronucleus assay for monitoring the genotoxic effects of arsenic in human populations: A systematic review of the literature and meta-analysis
Publication date: April–June 2019Source: Mutation Research/Reviews in Mutation Research, Volume 780Author(s): Ju Dong, Jun-qin Wang, Qin Qian, Guo-chun Li, Dong-qin Yang, Chao JiangAbstractThe micronucleus (MN) assay has been used to determine the potential genotoxic effects in human populations exposed to arsenic. Some of these studies found an increase in MN frequency among exposed individuals, but others found no increase or inconclusive results. Thus, the main purpose of this current study was to investigate whether MN can be used as a biomarker for the arsenic exposure, as well as whether or not the different cell t...
Source: Mutation Research Reviews in Mutation Research - March 15, 2019 Category: Genetics & Stem Cells Source Type: research