{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:11:44Z","timestamp":1764688304790,"version":"3.40.4"},"reference-count":9,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Princ Pract"],"published-print":{"date-parts":[[2003]]},"abstract":"<i>Objective:<\/i> Mutations in the <i>BRCA1<\/i> gene confer a high risk for the development of breast or ovarian cancer. The aim of this study was to establish the frequency and spectrum of <i>BRCA1<\/i> mutations in Czech breast or ovarian cancer families. <i>Subjects and Methods:<\/i> We have screened 28 patients with early-onset cancer and 54 patients from risk families for germ-line mutations in <i>BRCA1<\/i>. All coding exons were analyzed by the protein truncation test (PTT) and the reverse transcription polymerase chain reaction (RT-PCR). Detected variants were characterized by direct sequencing of PCR products. <i>Results:<\/i> Five distinct deleterious mutations have been identified in six families. All the mutations led to the premature termination of translation. One mutation was detected in a group of 11 (9.1%) patients with early-onset breast cancer. Two mutations were observed in 32 (6.3%) families with a history of breast cancer only. Three mutations were found in 22 (13.6%) families with both breast and ovarian cancer. The 5382insC mutation was the only abnormality detected twice. In addition, two variant transcripts, the loss of exon 5 and in-frame 3-bp deletion at the beginning of exon 8, were identified only at the cDNA level. Their biological significance remains unknown. <i>Conclusion:<\/i> PTT analysis enables examination of long PCR products. The technique is useful for rapid detection of mutations in hereditary breast cancer.<\/jats:p>","DOI":"10.1159\/000068163","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T21:05:40Z","timestamp":1050440740000},"page":"23-29","source":"Crossref","is-referenced-by-count":21,"title":["Mutations of the <i>BRCA1<\/i> Gene in Hereditary Breast and Ovarian Cancer in the Czech Republic"],"prefix":"10.1159","volume":"12","author":[{"given":"P.","family":"Pohlreich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"St\u0159\u00edbrn\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Kleibl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zik\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kalb\u00e1\u010dov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Petru\u017eelka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Konop\u00e1sek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,1,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91578-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19980729)77:3<354::AID-IJC8>3.0.CO;2-N"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(20000601)86:5<737::AID-IJC21>3.0.CO;2-1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/302922"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/301628"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086\/318787"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1332"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1987.9999"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P"}],"container-title":["Medical Principles and Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/68163","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/68163","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:30:40Z","timestamp":1745465440000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000068163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2003,3,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000068163","archive":["Portico"],"relation":{},"ISSN":["1011-7571","1423-0151"],"issn-type":[{"type":"print","value":"1011-7571"},{"type":"electronic","value":"1423-0151"}],"subject":[],"published":{"date-parts":[[2003]]}}}