Gephyrin and neurexin 3 are new large common fragile site (cFS) genes frequently rearranged in different human cancers

Abstract

Common fragile sites (cFS) are regions of genomic instability that are prone to breakage under conditions partially inhibiting DNA synthesis. These regions are found in all individuals and appear to be hotspots of chromosomal rearrangements in cancers and neurological diseases. It has been suggested that DNA damage during the early stages of tumorigenesis preferentially targets cFSs, since they are sensitive to replication stress. The identification of the full repertoire of Human FRAGILOME sequences is an important task of Cancer Genome research leading to the discovery of new cancer susceptibility genes.