{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T10:57:20Z","timestamp":1769597840372,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Privatstiftung f\u00fcr Brustgesundheit"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We investigated the prevalence of germline <jats:italic>BRCA<\/jats:italic> mutations in a population\u2010based cohort of Austrian women diagnosed with ovarian cancer and its association with family history of cancer. We prospectively collected family pedigrees of 443 Austrian ovarian cancer patients who had been tested for the presence of a germline <jats:italic>BRCA<\/jats:italic> or <jats:italic>2<\/jats:italic> mutations and correlated the familial breast and ovarian cancer burden with the prevalence of <jats:italic>BRCA<\/jats:italic> mutations and disease onset. The probability of carrying a g<jats:italic>BRCA<\/jats:italic> mutation in patients without family history of cancer is 14% (95% CI 9%\u201022%), as opposed to 45% (95% CI 31%\u201059%) of patients with at least one family member with ovarian cancer, and 47% (95% CI 40%\u201054%) if other relatives have developed breast cancer. If both breast and ovarian cancer are diagnosed in the family, the probability of carrying a germline <jats:italic>BRCA1<\/jats:italic> or <jats:italic>2<\/jats:italic> mutations is 60% (95% CI 50%\u201068%). germline <jats:italic>BRCA1<\/jats:italic> or mutations in families with ovarian cancer only are commonly located in the Ovarian Cancer Cluster Regions when compared to families with both breast and ovarian cancer (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.001, and <jats:italic>P<\/jats:italic>\u00a0=\u00a00.020, respectively). While g<jats:italic>BRCA mutation<\/jats:italic> carriers with ovarian cancer do not have a significantly different age at onset than patients with a family history of cancer, g<jats:italic>BRCA1<\/jats:italic> carriers in general have an earlier onset than g<jats:italic>BRCA2<\/jats:italic> carriers (<jats:italic>P\u00a0<\/jats:italic>=\u00a00.002) and patients without a mutation (<jats:italic>P\u00a0<\/jats:italic>=\u00a00.006). The rate of germline <jats:italic>BRCA1<\/jats:italic> or <jats:italic>2<\/jats:italic> mutations in ovarian cancer patients without a family history or breast or ovarian cancer is low. However, in women with additional family members affected, the prevalence is considerably higher than previously reported.<\/jats:p>","DOI":"10.1002\/cam4.2000","type":"journal-article","created":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T08:34:38Z","timestamp":1551429278000},"page":"1875-1881","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Association between family history, mutation locations, and prevalence of <i>BRCA1<\/i> or <i>2<\/i> mutations in ovarian cancer patients"],"prefix":"10.1002","volume":"8","author":[{"given":"Christian F.","family":"Singer","sequence":"first","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1063-5352","authenticated-orcid":false,"given":"Yen Y.","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Muhr","sequence":"additional","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Rappaport","sequence":"additional","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daphne","family":"Gschwantler\u2010Kaulich","sequence":"additional","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna 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Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muy\u2010Kheng M.","family":"Tea","sequence":"additional","affiliation":[{"name":"Department of OB\/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/375033"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6603535"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.21536"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.39.8545"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000346593"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10154"},{"key":"e_1_2_7_8_1","first-page":"3776","article-title":"Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 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