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Genetic variation o...
Genetic variation of acquired structural chromosomal aberrations
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- Vodicka, Pavel (författare)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Musak, Ludovit (författare)
- Comenius University
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- Vodickova, Ludmila (författare)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Vodenkova, Sona (författare)
- Charles University in Prague,Institute of Experimental Medicine, Czech Academy of Science
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- Catalano, Calogerina (författare)
- German Cancer Research Centre
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- Kroupa, Michal (författare)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Naccarati, Alessio (författare)
- Italian Institute for Genomic Medicine (IIGM),Institute of Experimental Medicine, Czech Academy of Science
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- Polivkova, Zdena (författare)
- Charles University in Prague
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- Vymetalkova, Veronika (författare)
- Charles University in Prague,Institute of Experimental Medicine, Czech Academy of Science
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- Försti, Asta (författare)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre,Center for Primary Health Care Research
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- Hemminki, Kari (författare)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,Center for Primary Health Care Research,German Cancer Research Centre
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- Engelska.
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Ingår i: Mutation Research - Genetic Toxicology and Environmental Mutagenesis. - : Elsevier BV. - 1383-5718. ; 836, s. 13-21
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Human malignancies are often hallmarked with genomic instability, which itself is also considered a causative event in malignant transformation. Genomic instability may manifest itself as genetic changes in the nucleotide sequence of DNA, or as structural or numerical changes of chromosomes. Unrepaired or insufficiently repaired DNA double-strand breaks, as well as telomere shortening, are important contributors in the formation of structural chromosomal aberrations (CAs). In the present review, we discuss potential mechanisms behind the formation of CAs and their relation to cancer. Based on our own studies, we also illustrate how inherited genetic variation may modify the frequency and types of CAs occurring in humans. Recently, we published a series of studies on variations in genes relevant to maintaining genomic integrity, such as those encoding xenobiotic-metabolising enzymes, DNA repair, the tumour suppressor TP53, the spindle assembly checkpoint, and cyclin D1 (CCND1). While individually genetic variation in these genes exerted small modulating effects, in interactions they were associated with CA frequencies in peripheral blood lymphocytes of healthy volunteers. Moreover, we observed opposite associations between the CCND1 splice site polymorphism rs9344 G870A and the frequency of CAs compared to their association with translocation t(11,14). We discuss the functional consequences of the CCND1 gene in interplay with DNA damage response and DNA repair during malignant transformation. Our review summarizes existing evidence that gene variations in relevant cellular pathways modulate the frequency of CAs, predominantly in a complex interaction. More functional/mechanistic studies elucidating these observations are required. Several questions emerge, such as the role of CAs in malignancies with respect to a particular phenotype and heterogeneity, the formation of CAs during the process of malignant transformation, and the formation of CAs in individual types of lymphocytes in relation to the immune response.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Chromosomal aberrations
- Cyclin D1
- DNA repair
- Genetics
- Mitotic checkpoints
- Xenobiotic metabolizing enzymes
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- ref (ämneskategori)
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Vodicka, Pavel
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Musak, Ludovit
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Vodickova, Ludmi ...
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Vodenkova, Sona
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Catalano, Caloge ...
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Kroupa, Michal
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Naccarati, Aless ...
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Polivkova, Zdena
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Vymetalkova, Ver ...
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Försti, Asta
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Hemminki, Kari
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