Fragile sites in cancer: more than meets the eye

• Published in: Nature reviews. Cancer Vol. 17; no. 8; pp. 489 - 501
• Main Authors: Glover, Thomas W., Wilson, Thomas E., Arlt, Martin F.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.08.2017; Nature Publishing Group
• Subjects: 631/208/737/211; 631/337/1427/2566; 631/337/151; 631/337/641/2187; 631/67/68; 631/67/69; 631/80/641/151/2356; 631/80/641/151/2357; Analysis; Anaphase; Animals; Biomedicine; Cancer; Cancer Research; Chromosomal Instability; Chromosome Breakage; Chromosome Fragile Sites; Chromosome rearrangements; Chromosome translocations; Chromosomes; Copy number; DNA Breaks, Double-Stranded; DNA Copy Number Variations; DNA Replication; Fragile sites; Gene Rearrangement; Genomes; Genomic instability; Humans; Ionizing radiation; Metaphase; Neoplasms - genetics; Oncogenes - genetics; opinion-2
• ISSN: 1474-175X; 1474-1768
• DOI: 10.1038/nrc.2017.52

This Opinion article discusses recent studies that have provided new insights into the mechanisms of common fragile site instability and the resulting genomic effects, which include the generation of focal copy number alterations that affect the genomic landscape of many cancers. Ever since initial suggestions that instability at common fragile sites (CFSs) could be responsible for chromosome rearrangements in cancers, CFSs and associated genes have been the subject of numerous studies, leading to questions and controversies about their role and importance in cancer. It is now clear that CFSs are not frequently involved in translocations or other cancer-associated recurrent gross chromosome rearrangements. However, recent studies have provided new insights into the mechanisms of CFS instability, their effect on genome instability, and their role in generating focal copy number alterations that affect the genomic landscape of many cancers.