Translocations in Normal B Cells and Cancers

摘要: Chromosomal translocations are recurrent genetic events that define many types of cancers. Since their first description several decades ago as defining elements in cancer cells, our understanding the mechanisms determine formation well implications for progression and therapy has remarkably progressed. originate from double-strand breaks (DSBs) brought into proximity nuclear space joined inappropriately by DNA-repair pathways. The frequency pattern influenced perturbations any these events. DSB is heavily determined physiologic processes, such activity RAG1/2 AID enzymes during B-cell development or maturation, pathologic factors, ionizing radiations, ROS, fragile sites. Cellular processes mRNA transcription, DNA replication, repair can influence chromosomal territories modify relative position genes inside nucleus. factors contribute not only to maintenance genome integrity but also normal cells. Next-generation sequencing techniques provide an unprecedented powerful tool approach field translocations. Using specific examples, we will explain how genome-wide translocation mapping methods, high-throughput genomic (HTGTS) translocation-capture sequencing, combined with large-scale methods chromosome domains, 4C Hi-C, have changed view rules governing noncancer Finally, review rearrangements newly described findings, chromothripsis, cells based on novel formation.