Genome instability refers to the failure to maintain genome integrity and susceptibility to genetic alterations, including gene mutations, DNA copy number variations, chromosomal rearrangements, and aneuploidy. Genome instability has been known as a driving evolutionary force for genetic diversity from bacteria to humans. In physiological conditions, genome instability is critical for immunoglobulin (Ig) diversification in human T-cell development. However, genome instability is usually linked with pathological disorders such as congenital diseases exampled by Down syndrome, neural degenerative diseases, and human cancers.

Various mechanisms, such as DNA damage repair, cell cycle regulation, and epigenetic factors, can cause genome instability. Understanding the causes and consequences of genome instability is crucial for deciphering human diseases and developing innovative therapeutic strategies. One well-known example is imatinib, which explicitly inhibits BCR-ABL1 fusion protein from the Philadelphia chromosome, chromosomes 9 and 22 translocations, in chronic myeloid leukemia patients. This targeted cancer therapy has revolutionized modern cancer treatment.

With the recent advances in massive parallel sequencing and genome editing technologies, researchers can now comprehensively analyze genomic alterations, elucidate pathways, uncover novel driver mutations, and identify new potential therapeutic targets of human diseases associated with genome instability.

This research topic aims to consolidate the latest research findings, theories, and experimental approaches that illuminate the mechanisms underlying genome instability and their implications in the development of human diseases. We aim to address critical questions in this field, including how DNA damage is generated or repaired to affect genome integrity, how specific genomic alterations drive tumorigenesis, and how these insights can be translated into more effective diagnostic and therapeutic strategies.

We invite researchers to submit manuscripts addressing the following themes:

1. Molecular Mechanisms of Genome Instability: This includes DNA replication, DNA damage repair, telomere dysfunction, the formation of complex genomic rearrangements, and extrachromosomal DNA (ecDNA).

2. Genomic Alterations in Cancer: the spectrum of genomic rearrangements in different cancer types, the genomic alterations that drive tumorigenesis, and the impact of genome instability on tumor heterogeneity and somatic evolution.

3. Therapeutic Strategies and Clinical Applications: Examine therapeutic approaches by targeting genome instability, such as synthetic lethality, and explore personalized medicine options.

We welcome original research articles, case reports, reviews, mini-reviews, perspectives, and methodological papers that contribute to a deeper understanding of genome instability's role in human diseases. Interdisciplinary collaborations and studies that bridge the gap between basic science and clinical practice are particularly encouraged.

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Frontiers in Molecular Biosciences

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