{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:46:06Z","timestamp":1792676766825,"version":"4.5.0"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,11,26]],"date-time":"2015-11-26T00:00:00Z","timestamp":1448496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Academy of Finland and Marie Curie Career Integration Grant","award":["PCIG11-GA-2012-321983"],"award-info":[{"award-number":["PCIG11-GA-2012-321983"]}]},{"name":"(European Commission Framework Programme 7)"},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","award":["256996"],"award-info":[{"award-number":["256996"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","award":["263870"],"award-info":[{"award-number":["263870"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Sigrid Jus\u00e9lius Foundation, Cancer Society of Finland, and Biocentrum Helsinki"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:p>Genome instability is a hallmark of many tumors and recently, next\u2010generation sequencing methods have enabled analyses of tumor genomes at an unprecedented level. Studying rearrangement\u2010prone chromosomal regions (putative \u201cbreakpoint hotspots\u201d) 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\u2010distance inverse PCR\u2010based method for the detection and screening of de novo DNA rearrangements in uterine leiomyomas, one of the most common types of human neoplasm. 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 leiomyomas for rearrangements at genomic locations known to be rearrangement\u2010prone in this tumor type: upstream <jats:italic>HMGA2<\/jats:italic> and within <jats:italic>RAD51B<\/jats:italic>. We identified a novel DNA rearrangement upstream of <jats:italic>HMGA2<\/jats:italic> that had gone undetected in an earlier whole\u2010genome sequencing study. In more than 30 additional uterine leiomyoma samples, not analyzed by whole\u2010genome sequencing previously, no rearrangements were observed within the 1,107 bp and 1,996 bp assayed in the <jats:italic>RAD51B<\/jats:italic> and <jats:italic>HMGA2<\/jats:italic> rearrangement hotspots. Our findings show that long\u2010distance inverse PCR is a robust, sensitive, and cost\u2010effective method for the detection and screening of DNA rearrangements from solid tumors that should be useful for many diagnostic applications. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22317","type":"journal-article","created":{"date-parts":[[2015,11,26]],"date-time":"2015-11-26T11:03:34Z","timestamp":1448535814000},"page":"215-226","source":"Crossref","is-referenced-by-count":9,"title":["Detection and screening of chromosomal rearrangements in uterine leiomyomas by long\u2010distance inverse <scp>PCR<\/scp>"],"prefix":"10.1002","volume":"55","author":[{"given":"Barun","family":"Pradhan","sequence":"first","affiliation":[{"name":"Genome\u2010Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki Helsinki Finland"},{"name":"Biochemistry and Developmental Biology Faculty of Medicine, University of Helsinki Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanna","family":"Sarvilinna","sequence":"additional","affiliation":[{"name":"Genome\u2010Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki Helsinki Finland"},{"name":"Obstetrics and Gynecology Helsinki University Hospital Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Matilainen","sequence":"additional","affiliation":[{"name":"Genome\u2010Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki Helsinki Finland"},{"name":"Biochemistry and Developmental Biology Faculty of Medicine, University of Helsinki Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elli","family":"Aska","sequence":"additional","affiliation":[{"name":"Genome\u2010Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki Helsinki 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