Overview
Genetic instability, also termed genomic instability, is an elevated tendency of a cell's genome to acquire mutations and structural alterations, encompassing point mutations, chromosomal rearrangements, gains and losses of genetic material, and broader aneuploidy. It results when the fidelity of DNA replication, repair, and chromosome segregation is compromised, allowing damage from sources such as oxidation, replication errors, and environmental exposure to accumulate. Genomic instability is a recognized hallmark of cancer and a contributor to aging and degenerative disease, because progressive accumulation of genetic change disrupts cellular function and can drive malignant transformation. Mechanistically it is studied at the level of specific genes whose variants alter function or carry uncertain clinical significance, illustrated by structural and functional analysis of variants in tumor-suppressor genes such as BRCA1, where amino-acid substitutions are evaluated for their effect on protein activity and disease risk. Related research applies molecular and bioinformatic tools to detect and quantify nucleic-acid biomarkers, including microRNAs measured by microfluidic and digital PCR methods for the screening and diagnosis of cancers such as colorectal cancer, and situates these advances within large-scale proteomic and genomic efforts to interpret disease at the molecular level. Evolutionary and developmental studies further examine how genetic change relates to organismal variation. The field thus links DNA damage and repair, mutation, and molecular diagnostics across cancer biology and aging.
Research published in this journal
6 peer-reviewed articles, ranked by relevance. Each links to its DOI.
Use of Microfluidic Assays to Develop Reliable and Economic Nucleic Acid Application Technologies, Employing MicroRNAs for the Diagnostic Screening of Colon Cancer in Human Stool in Low-Resource Settings
Use of Microfluidic Assays to Develop Reliable and Economic Nucleic Acid Application Technologies, Employing MicroRNAs for the Diagnostic Screening of Colon Cancer in Human Stool in Low-Resource Settings
Functional, Structural and Contextual Analysis of a Variant of Uncertain Clinical Significance in BRCA1: c.5434C->G (p. Pro1812Ala)
Human Proteome Project and Current Bioinformatics Status in Disease Diagnosis and Treatment
Quantification of Micrornas by Absolute Dpcr for the Diagnostic Screening of Colon Cancer
How this research is being cited
The 6 articles above have been cited 16 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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Diagnostic and Therapeutic Potential of Selected microRNAs in Colorectal Cancer: A Literature Review2025 · Cancers
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Diagnostic and Therapeutic Potential of Selected microRNAs in Colorectal Cancer: A Literature Review2025 · Cancers
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2024 · Diagnostics
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2024 · Diagnostics
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2023 · Biosensors
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2023 · Biosensors
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2023 · Frontiers in Pharmacology
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2023 · Medical Oncology
A sample of recent works citing this journal's research on Genetic Instability, linking to each citing work.