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Updated: Feb 3, 2026
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Analysis of the Ambient Particulate Matter-induced Chromosomal Aberrations Using an In Vitro System
Published on: December 21, 2016
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Genetic variation of acquired structural chromosomal aberrations
Pavel Vodicka1, Ludovit Musak2, Ludmila Vodickova1
1Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, 14220, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, 12800, Czech Republic; Faculty of Medicine and Biomedical Center in Pilsen, Charles University, Pilsen, 30605, Czech Republic.
Mutation Research. Genetic Toxicology and Environmental Mutagenesis
|November 4, 2018
Summary
Genomic instability, marked by chromosomal aberrations (CAs), drives cancer. Inherited gene variations interact to influence CA frequency, impacting cancer development.
Area of Science:
- Genetics
- Cancer Biology
- Genomic Instability
Background:
- Human malignancies are characterized by genomic instability, a key factor in cancer development.
- Genomic instability manifests as DNA sequence changes or chromosomal alterations.
- DNA double-strand breaks and telomere shortening contribute to chromosomal aberrations (CAs).
Purpose of the Study:
- To review mechanisms of CA formation and their link to cancer.
- To illustrate how inherited genetic variations influence CA frequency and types.
- To explore the role of specific gene variations in maintaining genomic integrity and their impact on CAs.
Main Methods:
- Review of existing literature on CA formation and cancer.
- Analysis of studies on variations in genes related to genomic integrity (e.g., DNA repair, TP53, CCND1).
- Investigation of interactions between genetic variations and CA frequencies in human lymphocytes.
Main Results:
- Individual genetic variations in key genes showed minor effects on CA frequencies.
- Interactions among genetic variations were associated with CA frequencies in healthy volunteers' lymphocytes.
- A specific CCND1 polymorphism (rs9344 G870A) showed opposing associations with CA frequency and t(11;14) translocation.
Conclusions:
- Gene variations in cellular pathways modulate CA frequency, often through complex interactions.
- Further functional studies are needed to elucidate these mechanisms.
- Open questions remain regarding the role of CAs in cancer phenotype, heterogeneity, and lymphocyte-specific responses.
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