Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

• DOI: 10.1016/j.celrep.2014.11.022
• Publication Date: 2014-12-11T13:41:13Z
• Authors: Sebastiaan van He...; Marieke Simonis; Markus J. van Roo...; Vamsee Pillalamarri; Harrison Brand; Ewart W. Kuijk; Kim L. de Luca; Nico Lansu; A. Koen Braat; Androniki Menelaou; Wensi Hao; Jeroen Korving; Simone Snijder; Lars T. van der V...; Ron Hochstenbach; Alida C. Knegt; Karen Duran; Ivo Renkens; Najla Alekozai; Myrthe Jager; Sarah Vergult; Björn Menten; Ewart de Bruijn; Sander Boymans; Elly Ippel; Ellen van Binsbergen; Michael E. Talkowski; Klaske Lichtenbelt; Edwin Cuppen; Wigard P. Klooste...
• Keywords: Breakpoint

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences poorly understood. We performed molecular analysis two patients with disease who carried de novo genomic rearrangements. found that the in both hit genes recurrently rearranged cancer (ETV1, FOXP1, microRNA cluster C19MC) drive formation fusion similar to those described cancer. Subsequent large set 552 germline underlying disorders revealed enrichment for overlap somatic breakpoints. Breakpoints (inherited) structural variations also breakpoints but depleted genes. propose same positions prone soma timing context breakage determines whether developmental defects or promoted.