Medicina Molecular e Genética

Review on Chromosomal Rearrangement and Structural Modifications

Abstract

Mark Thomas

Genetic mutation accumulation can influence the onset, course, and metastasis of cancer. Even though such translocations frequently cause problems with the regulation of the implicated genes, some rearrangements are straightforward balanced translocations that arise from a single fusion and maintain the correct complement of genetic information. Other rearrangements lack the regular complement of genetic information and are more complicated, including numerous fusions at a single locus. Such rearrangements can contribute to tumour heterogeneity and clonal evolution, which operate as mechanisms for metastasis and medication resistance. They also have the potential to induce cancer if they alter a tumour suppressor gene or activate an oncogene. Thus, chromosomal rearrangements play a crucial role in the aetiology of cancer. The first section of this review will outline recent technological developments that led to the identification and characterization of translocations.