Genomic Instability and Chromosomal Aberrations in Cancer Risk

Genomic instability denotes a heightened tendency for genetic alterations and is recognised as a fundamental hallmark of cancer. Disruption of DNA replication fidelity or repair mechanisms leads to chromosomal aberrations—structural changes such as translocations, deletions, duplications and numerical alterations including aneuploidy. Common sources of such instability include DNA double-strand breaks, replication stress and telomere erosion. Accumulation of these aberrations drives oncogenic transformation by enabling rapid clonal evolution, fostering intratumour heterogeneity and promoting resistance to therapy. Advances in high-throughput sequencing and cytogenetic assays have refined detection of both simple and complex rearrangements, including chromothripsis. Quantifying aberration burden in peripheral blood lymphocytes has emerged as a predictive biomarker for cancer risk, while mechanistic insights into repair pathway deficiencies inform the design of genome-stabilising therapies. Integrating cytogenetic and genomic measures promises to enhance early detection, risk stratification and personalised intervention across diverse malignancies.

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Genomic Instability and Chromosomal Aberrations in Cancer Risk publication trend

The graph below shows the total number of articles in genomic instability and chromosomal aberrations in cancer risk across all publications each year (not limited to Nature Index journals).

Technical terms

Genomic instability: The increased rate of mutations and chromosomal alterations in cells due to defects in replication or repair processes.

Chromosomal aberration: A structural alteration in a chromosome, including deletions, duplications, translocations or aneuploidy, that can disrupt gene function.

DNA double-strand break (DSB): A type of DNA damage in which both strands of the DNA helix are severed, often triggering repair pathways.

Telomere: Protective DNA-protein complexes at chromosome ends that shorten with each cell division, whose attrition can lead to genomic instability.

DNA repair pathway: A series of specialised mechanisms—such as homologous recombination, nucleotide excision repair and base excision repair—that detect and correct various forms of DNA damage.

References

1. Chromosomal Aberrations in Lymphocytes of Healthy Subjects and Risk of Cancer. Environmental Health Perspectives (2005).
2. DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations. Frontiers in Genetics (2021).
3. DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population. DNA Repair (2021).