{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:20:22Z","timestamp":1791274822952,"version":"4.1.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2005]]},"abstract":"<jats:p>Cells defective in &lt;i&gt;BRCA1&lt;\/i&gt; show genomic instability as evidenced by increased radiosensitivity, the presence of chromosomal abnormalities and the loss of heterozygosity at many loci. Reported chromosomal abnormalities in &lt;i&gt;BRCA1&lt;\/i&gt; deficient cells include dicentric chromosomes. Dicentric chromosomes, in some cases, may arise as a result of end-to-end chromosome fusions, which represent signatures of telomere dysfunction. In this study we examined &lt;i&gt;BRCA1 &lt;\/i&gt;deficient human and mouse cells for the presence of chromosomal aberrations indicative of telomere dysfunction. We identified a lymphoblastoid cell line, GM14090, established from a &lt;i&gt;BRCA1&lt;\/i&gt; carrier that showed elevated levels of dicentric chromosomes. Molecular cytogenetic analysis revealed that these dicentric chromosomes result from end-to-end chromosome fusions. The frequency of end-to-end chromosome fusions did not change after exposure of GM14090 cells to bleomycin but we observed elevated levels of chromosomal abnormalities involving interactions between DNA double strand breaks and uncapped telomeres in this cell line. We observed similar chromosomal abnormalities involving telomeres in the breast cancer cell line, HCC1937, homozygous for &lt;i&gt;BRCA1&lt;\/i&gt; mutation. Finally, we analyzed mouse embryonic stem cells lacking functional &lt;i&gt;Brca1&lt;\/i&gt; and observed the presence of telomere dysfunction following exposure of these cells to bleomycin. Our results reveal cytogenetic evidence of telomere dysfunction in &lt;i&gt;BRCA1&lt;\/i&gt; deficient cells.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000084208","type":"journal-article","created":{"date-parts":[[2005,5,20]],"date-time":"2005-05-20T09:08:56Z","timestamp":1116580136000},"page":"491-496","source":"Crossref","is-referenced-by-count":27,"title":["Chromosomal aberrations involving telomeres in &lt;i&gt;BRCA1&lt;\/i&gt; deficient human and mouse cell lines"],"prefix":"10.1159","volume":"109","author":[{"given":"S.","family":"Al-Wahiby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Slijepcevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2005,5,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.274.26.18808"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.dnarep.2003.11.007"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1294-387"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1128%2FMCB.24.4.1595-1607.2004"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1203165"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1128%2FMCB.23.16.5572-5580.2003"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2F76950"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1101%2Fgad.1192704"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1206678"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1202243"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1667%2FRR3093"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1203334"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0092-8674%2804%2900337-X"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1205636"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1128%2FMCB.23.23.8668-8690.2003"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038%2F8743"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:40:56Z","timestamp":1745466056000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000084208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2005,5,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000084208","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}