Complex Chromosomal Rearrangements in Cancers and Congenital Disorders

Dear Colleagues, 

DNA sequencing of cancer tissues and of individuals with congenital disorders has uncovered many patterns of chromosomal alterations that involve multiple rearrangements. Complex chromosomal rearrangements (CCRs) can result from multiple rounds of mutagenesis due to genome instability. A classic example of this type of mutational process is the breakage–fusion–bridge cycles that can lead to gene amplifications, first described by Barbara McClintock back in 1939. CCRs can also be generated in a single catastrophic event causing massive mutagenesis, such as the recently discovered phenomenon of chromothripsis (shattered chromosomes) and several other chromosomal abnormalities, generally referred to as “chromoanagenesis”. Analysis of CCRs in diseases and the search for their mechanisms have led to new research strategies combining experimental cell biology and DNA sequencing, and generated new knowledge on the mechanistic link between CCRs and chromosome segregation errors.

In this special issue, we invite colleagues to contribute both original analyses and reviews on the general subject of complex chromosomal rearrangements. Relevant topics include, but are not limited to, discoveries and descriptions of CCRs in human disease, technology and computational approaches for CCR analysis, and experimental studies of CCR mechanisms and their functional impacts. By bringing together investigators studying CCRs in different disease contexts or using different experimental or analytical approaches, we hope to generate new insight into both the aetiology of CCRs and how they contribute to pathogenesis and drive genome evolution.

Dr. Cheng-Zhong Zhang
Dr. Alexander Spektor
Prof. Cynthia Casson Morton
Guest Editors

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• chromosomal rearrangement
• genome instability
• chromothripsis
• cancer genetics
• karyotypic abnormality
• bioinformatics and computational biology