{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T07:11:54Z","timestamp":1768547514445,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,7,26]],"date-time":"2005-07-26T00:00:00Z","timestamp":1122336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>The clinical relevance of <jats:italic>BRCA1\/2<\/jats:italic> alterations in ovarian carcinoma patients is debatable. Our aim was to determine factors influencing the risk of recurrence and death in ovarian carcinoma patients with <jats:italic>BRCA<\/jats:italic> pathogenic and unclassified variant mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>A consecutive series of 205 women with primary ovarian carcinoma were screened for mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes using a conformational sensitive gel electrophoresis and direct sequencing. Data regarding medical and familial history were collected using questionnaires. Clinical and pathologic data were extracted from medical records.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Unclassified variant mutations in <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> genes were found in 16 (8%) patients, and <jats:italic>BRCA1<\/jats:italic> pathogenic mutations were found in 18 (9%) patients. No pathogenic mutation was found in <jats:italic>BRCA2<\/jats:italic> gene. Multivariate analysis showed that <jats:italic>BRCA1<\/jats:italic> pathogenic mutation was an independent predictor of reduced risk of relapse and death (Hazard ratios [HR] 0.52 [confidence interval {CI} 0.28\u20130.98] and 0.38 [CI 0.10\u20130.96], respectively). Unclassified variant mutation did not affect recurrence and survival (HR 0.84 [CI 0.43\u20131.66] and 0.94 [CI 0.48\u20131.82], respectively). Other factors associated with reduced risk of relapse and death were complete pathologic remission at second\u2010look laparotomy and family history of breast and ovarian carcinoma, respectively. Recurrence and death outcomes among unclassified variant mutation carriers did not differ significantly from those in sporadic cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>Patients with <jats:italic>BRCA1<\/jats:italic> pathogenic mutation seem to have reduced risk of recurrence and death. These results should be interpreted with caution as they may be influenced by more intensive treatment, better response to cisplatin, and younger age of mutation carriers. Clinical relevance of <jats:italic>BRCA1\/2<\/jats:italic> unclassified variant mutations warrants further studies. Cancer 2005. \u00a9 2005 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.21276","type":"journal-article","created":{"date-parts":[[2005,7,26]],"date-time":"2005-07-26T14:09:07Z","timestamp":1122386947000},"page":"1004-1012","source":"Crossref","is-referenced-by-count":52,"title":["Prognostic impact of <i>BRCA1<\/i> pathogenic and <i>BRCA1\/BRCA2<\/i> unclassified variant mutations in patients with ovarian carcinoma"],"prefix":"10.1002","volume":"104","author":[{"given":"Ewa Joanna","family":"Majdak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaroslaw","family":"Debniak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Milczek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cees J.","family":"Cornelisse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Devilee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janusz","family":"Emerich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"Jassem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geertruida Hendrika","family":"De 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