UNASSIGNED: Genome instability is a hallmark of many @entity5 and recently, next-generation sequencing methods have enabled analyses of @entity5 genomes at an unprecedented level. Studying rearrangement-prone chromosomal regions (putative "breakpoint hotspots") in detail, however, necessitates molecular assays that can detect de novo DNA fusions arising from these hotspots. Here we demonstrate the utility of a long-distance inverse PCR-based method for the detection and screening of de novo DNA rearrangements in uterine @entity2909 , one of the most common types of @entity1 @entity5 . This assay allows in principle any genomic region suspected of instability to be queried for DNA rearrangements originating there. No prior knowledge of the identity of the fusion partner chromosome is needed. We used this method to screen uterine @entity2909 for rearrangements at genomic locations known to be rearrangement-prone in this @entity5 type: upstream @entity9625 and within @entity24716 . We identified a novel DNA rearrangement upstream of @entity9625 that had gone undetected in an earlier whole-genome sequencing study. In more than 30 additional uterine @entity2909 samples, not analyzed by whole-genome sequencing previously, no rearrangements were observed within the 1,107 bp and 1,996 bp assayed in the @entity24716 and @entity9625 rearrangement hotspots. Our findings show that long-distance inverse PCR is a robust, sensitive, and cost-effective method for the detection and screening of DNA rearrangements from solid @entity5 that should be useful for many diagnostic applications.    2015 Wiley Periodicals, Inc.

Detection and screening of chromosomal rearrangements in uterine XXXX by long-distance inverse PCR.

@entity1 :: ('9606', 'Species') :: ['human'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'tumors', 'neoplasm'] @entity24716 :: ('5890', 'Gene') :: ['RAD51B'] @entity2909 :: ('MESH:D007889', 'Disease') :: ['leiomyomas', 'leiomyoma'] @entity9625 :: ('8091', 'Gene') :: ['HMGA2']
@entity2909 :: (MESH:D007889,Disease) :: ['leiomyomas']
