{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T01:12:29Z","timestamp":1791335549007,"version":"4.3.1"},"reference-count":43,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2005,11,14]],"date-time":"2005-11-14T00:00:00Z","timestamp":1131926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000005","name":"Department of Defense","doi-asserted-by":"crossref","award":["DAMD 17-98-1-8659"],"award-info":[{"award-number":["DAMD 17-98-1-8659"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2005,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>It is believed that <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> germline mutations account for the majority of hereditary ovarian carcinomas; however, to the authors' knowledge, there are scant data on the prevalence and spectrum of mutations, genotype\/phenotype correlations, tumor histology, and family history characteristics. To address this gap, the authors conducted a population\u2010based study of 232 incident epithelial ovarian carcinomas in the Tampa Bay area.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>Genetic testing for the <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes was performed through full sequencing and <jats:italic>BRCA1<\/jats:italic> rearrangement testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Of 209 women with invasive ovarian carcinoma, 32 women (15.3%) had mutations in <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic>, including 20 <jats:italic>BRCA1<\/jats:italic> mutations and 12 <jats:italic>BRCA2<\/jats:italic> mutations. Of the <jats:italic>BRCA2<\/jats:italic> mutations, 58% were outside the \u201covarian cancer cluster region\u201d (OCCR). Variants of uncertain significance were detected in 8.2% of women with invasive ovarian carcinoma. No mutations were identified in women with borderline or invasive mucinous tumors. Among the BRCA mutation\u2010positive women, 63% had serous tumors. A family history of breast and\/or ovarian carcinoma was reported in 65%, 75%, and 43.5% of relatives of <jats:italic>BRCA1<\/jats:italic> carriers, <jats:italic>BRCA2<\/jats:italic> carriers, and non\u2010<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>BRCA2<\/jats:italic> carriers, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>The data from this study suggested that 1) previous studies may have underestimated the frequency of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations in ovarian carcinomas, especially outside the OCCR; 2) it may be reasonable to offer genetic counseling to any woman with an invasive, nonmucinous epithelial ovarian tumor; and 3) among patients with invasive ovarian carcinoma, family history is not sufficiently accurate to predict mutation status. Cancer 2005. \u00a9 2005 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.21536","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T17:58:58Z","timestamp":1132163938000},"page":"2807-2816","source":"Crossref","is-referenced-by-count":588,"title":["<i>BRCA1<\/i> and <i>BRCA2<\/i> mutations account for a large proportion of ovarian carcinoma cases"],"prefix":"10.1002","volume":"104","author":[{"given":"Tuya","family":"Pal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Permuth\u2010Wey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith A.","family":"Betts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey 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