{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:50:45Z","timestamp":1763747445944,"version":"build-2065373602"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T00:00:00Z","timestamp":1444089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Genome Research Project from Yamanashi Prefecture (to Yosuke Hirotsu and Masao Omata)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>The contribution of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> to ovarian cancer in Japanese patients is still unclear. This study investigated the frequency of germline mutations in <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> in Japanese patients with ovarian, peritoneal, or fallopian tube cancer, regardless of their family histories, which were suggestive of hereditary breast and ovarian cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>Ninety\u2010five unselected women with ovarian cancer who were seen from 2013 to 2015 at Yamanashi Prefectural Central Hospital were enrolled. Analyses of <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> gene mutations were performed with next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Twelve of the 95 patients (12.6%), including 5 in the <jats:italic>BRCA1<\/jats:italic> (5.3%) and 7 in the <jats:italic>BRCA2<\/jats:italic> (7.4%), had deleterious mutations. Among the 36 cases with a family history, 6 (16.7%) were found to carry mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>. Notably, 6 of the 59 cases (10.2%) without a family history also had <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> germline mutations. There was no statistical difference between the 2 groups (<jats:italic>P<\/jats:italic> = .36). The presence of mutations and their clinical relevance were studied. Mutation carriers were diagnosed at advanced stages (100% of positive cases among stage III or IV cases) and had poor prognostic histological subtypes (100% of positive cases had high\u2010grade serous adenocarcinomas).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>In this unselected Japanese population, approximately 13% of the cases with ovarian cancer appeared to be associated with an inherited risk, regardless of a family history. This finding indicates that <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> genetic testing should be performed for all patients with ovarian cancers. <jats:bold><jats:italic>Cancer<\/jats:italic> 2016;122:84\u201390.<\/jats:bold> \u00a9 <jats:italic>2015 American Cancer Society<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.29707","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T10:14:30Z","timestamp":1444126470000},"page":"84-90","source":"Crossref","is-referenced-by-count":50,"title":["<scp><i>BRCA<\/i><\/scp><i>1<\/i> and <scp><i>BRCA<\/i><\/scp><i>2<\/i> mutations in <scp>J<\/scp>apanese patients with ovarian, fallopian tube, and primary peritoneal cancer"],"prefix":"10.1002","volume":"122","author":[{"given":"Ikuko","family":"Sakamoto","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Hirotsu","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Nakagomi","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetaka","family":"Ouchi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ikegami","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiro","family":"Teramoto","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Amemiya","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Omata","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan"},{"name":"Graduate School of Medicine University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,6]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Saishin Gan Toukei.Cancer Information Service [in Japanese].http:\/\/ganjoho.jp\/public\/statistics\/pub\/statistics01.html. 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