Rethinking the Term “Mutation” in Cancer Research: Is It Time for a New Definition?

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Motalleb Gholamreza

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Journal Paper

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Journal: INTERNATIONAL JOURNAL OF BASIC SCIENCE IN MEDICINE Year:2024 | Volume:9 | Issue:4 Page(s): 197-201

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Title

Rethinking the Term “Mutation” in Cancer Research: Is It Time for a New Definition?

Author(s)

Motalleb Gholamreza | Issue Writer Certificate

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Abstract

Redefining Mutation: The Impact of Genomic Variability in Cancer Cancer is projected to result in thirteen million deaths and over twenty-one million new cases by 2030, 1 making it a significant health concern of the twenty-first century. In addition, it is anticipated to become the second leading cause of death globally. Within cancer research, the idea of mutation as a permanent change to DNA has grown with time. 2 Many changes in the genome, including additions, deletions, copy number variations, and single-nucleotide polymorphisms, can result in cancer. These alterations, however, depend on the context and impact different kinds of cells in various ways. Such a wide range of genes makes it complex and difficult to define “mutation”. Not all mutations have equal effects,some progress to cancer, while others are benign or neutral. 2 This complexity raises questions about whether the term “mutation” adequately describes the genetic topography of cancer, which drives researchers to suggest a more all-encompassing term. 2 The new emphasis on heterogeneity and complex structural variants, including chromoplexy and chromothripsis, calls into question the conventional stepwise paradigm of mutation accumulation. 3 For example, chromothripsis is a one-step catastrophic event that breaks chromosomes and causes complicated rearranging linked with different tumors. 4 Chromoplexy is a prevalent mechanism through which multiple genomic regions located at considerable distances from one another can be simultaneously disrupted. 5 The simultaneous shuffling and deletion of numerous genomic areas associated with chromoplexy may result in the inactivation of tumor suppressor genes situated at large distances from one another, including those on different chromosomes.

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