{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:11:11Z","timestamp":1777371071811,"version":"3.51.4"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["not applicable"],"award-info":[{"award-number":["not applicable"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Surg Onc"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Disease sites of female genital tract cancers of <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic>-associated hereditary breast and ovarian cancer (HBOC) are less understood than non-hereditary cancers. We aimed to elucidate the disease site distribution of genital cancers in women with the germline <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> pathogenic variants <jats:italic>(BRCA1<\/jats:italic>+ and <jats:italic>BRCA2<\/jats:italic>+) of HBOC. For the primary disease site, the proportion of fallopian tube and peritoneal cancer was significantly higher in <jats:italic>BRCA2<\/jats:italic>+ (40.5%) compared with <jats:italic>BRCA1<\/jats:italic>+ (15.4%) and <jats:italic>BRCA\u2212<\/jats:italic> (no pathogenic variant, 12.8%). For the metastatic site, the proportion of peritoneal dissemination was significantly higher in <jats:italic>BRCA1<\/jats:italic>+ (71.9%) than <jats:italic>BRCA\u2212<\/jats:italic> (55.1%) and not different from <jats:italic>BRCA2<\/jats:italic>+ (71.4%). With one of the most extensive patients, this study supported the previous reports showing that the pathogenic variants of <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> were involved in the female genitalia\u2019s disease sites.<\/jats:p>","DOI":"10.1186\/s12957-021-02151-3","type":"journal-article","created":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T15:43:25Z","timestamp":1612280605000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The disease sites of female genital cancers of BRCA1\/2-associated hereditary breast and ovarian cancer: a retrospective study"],"prefix":"10.1186","volume":"19","author":[{"name":"and the Registration Committee of the Japanese HBOC consortium","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2287-023X","authenticated-orcid":false,"given":"Takashi","family":"Mitamura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayuki","family":"Sekine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masami","family":"Arai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Shibata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Momoko","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Yokoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidemichi","family":"Watari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Yabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Enomoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seigo","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,2]]},"reference":[{"key":"2151_CR1","unstructured":"National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Genetic\/Familial High-Risk Assessment: Breast and Ovarian. https:\/\/www.nccn.org\/professionals\/physician_gls\/default.aspx."},{"key":"2151_CR2","doi-asserted-by":"publisher","first-page":"1380","DOI":"10.1093\/jjco\/hyaa124","volume":"50","author":"T Mitamura","year":"2020","unstructured":"Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, et al. Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome. Jpn J Clin Oncol. 2020;50:1380. https:\/\/doi.org\/10.1093\/jjco\/hyaa124.","journal-title":"Jpn J Clin Oncol"},{"issue":"6","key":"2151_CR3","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1136\/ijgc-2019-000384","volume":"29","author":"T Enomoto","year":"2019","unstructured":"Enomoto T, Aoki D, Hattori K, Jinushi M, Kigawa J, Takeshima N, et al. The first Japanese nationwide multicenter study of BRCA mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to ovarian cancer geneTic TEsting of BRCA (CHARLOTTE). Int J Gynecol Cancer. 2019;29(6):1043\u20139.","journal-title":"Int J Gynecol Cancer"},{"issue":"1-2","key":"2151_CR4","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.cancergen.2012.01.008","volume":"205","author":"J Liu","year":"2012","unstructured":"Liu J, Cristea MC, Frankel P, Neuhausen SL, Steele L, Engelstaedter V, et al. Clinical characteristics and outcomes of BRCA-associated ovarian cancer: genotype and survival. Cancer Gene Ther. 2012;205(1-2):34\u201341.","journal-title":"Cancer Gene Ther"},{"issue":"21","key":"2151_CR5","doi-asserted-by":"publisher","first-page":"2654","DOI":"10.1200\/JCO.2011.39.8545","volume":"30","author":"K Alsop","year":"2012","unstructured":"Alsop K, Fereday S, Meldrum C, de Fazio A, Emmanuel C, George J, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian ovarian cancer study group. J Clin Oncol. 2012;30(21):2654\u201363.","journal-title":"J Clin Oncol"},{"issue":"12","key":"2151_CR6","doi-asserted-by":"publisher","first-page":"3701","DOI":"10.1245\/s10434-018-6700-6","volume":"25","author":"C Marchetti","year":"2018","unstructured":"Marchetti C, De Leo R, Musella A, D\u2019Indinosante M, Capoluongo E, Minucci A, et al. BRCA mutation status to personalize management of recurrent ovarian cancer: a multicenter study. Ann Surg Oncol. 2018;25(12):3701\u20138.","journal-title":"Ann Surg Oncol"},{"issue":"15","key":"2151_CR7","doi-asserted-by":"publisher","first-page":"2505","DOI":"10.1200\/JCO.2009.25.1082","volume":"28","author":"C Gourley","year":"2010","unstructured":"Gourley C, Michie CO, Roxburgh P, Yap TA, Harden S, Paul J, et al. Increased incidence of visceral metastases in scottish patients with BRCA1\/2-defective ovarian cancer: an extension of the ovarian BRCAness phenotype. J Clin Oncol. 2010;28(15):2505\u201311.","journal-title":"J Clin Oncol"}],"container-title":["World Journal of Surgical Oncology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12957-021-02151-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12957-021-02151-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12957-021-02151-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T15:44:06Z","timestamp":1612280646000},"score":1,"resource":{"primary":{"URL":"https:\/\/wjso.biomedcentral.com\/articles\/10.1186\/s12957-021-02151-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,2]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2151"],"URL":"https:\/\/doi.org\/10.1186\/s12957-021-02151-3","relation":{},"ISSN":["1477-7819"],"issn-type":[{"value":"1477-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,2]]},"assertion":[{"value":"25 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The ethics review board of the Japanese HBOC Consortium approved the establishment of the database on February 18, 2016, to investigate Japanese HBOC patients\u2019 characteristics. Among 80 medical institutions of this study, two institutions did not permit to include patients without informed consent, while others permitted an opt-out option.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The ethics review board of the Japanese HBOC Consortium approved the future publication of this study on February 18, 2016, to investigate Japanese HBOC patients\u2019 characteristics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"36"}}