{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T23:03:46Z","timestamp":1784415826207,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,8,2]],"date-time":"2020-08-02T00:00:00Z","timestamp":1596326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004325","name":"AstraZeneca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Science"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Whether germline (g) breast cancer susceptibility gene (<jats:italic>BRCA<\/jats:italic>) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380\u20104062\u00a0bp for g<jats:italic>BRCA1<\/jats:italic>, and between 3249\u20105681\u00a0bp and 6645\u20107471\u00a0bp for g<jats:italic>BRCA2<\/jats:italic>) may influence risk variations for ovarian cancers. This ad hoc analysis of the CHARLOTTE epidemiological study in Japan assessed the distribution of g<jats:italic>BRCA1\/2<\/jats:italic> mutations in patients with newly diagnosed ovarian cancer, and investigated an association between g<jats:italic>BRCA1\/2<\/jats:italic> mutation locations and ovarian cancer risk. Differences in patient background and clinical characteristics in subgroups stratified by g<jats:italic>BRCA1\/2<\/jats:italic> mutation locations were also evaluated. We analyzed the data of 93 patients (14.7%) from the CHARLOTTE study who were positive for g<jats:italic>BRCA1\/2<\/jats:italic> mutations. After excluding 16 cases with L63X founder mutation, 28 (65.1%) of g<jats:italic>BRCA1<\/jats:italic> mutations were within the OCCR. Of 30 g<jats:italic>BRCA2<\/jats:italic> mutations, 15 (50.0%) were within the OCCR. Of 27 patients (one patient excluded for unknown family history) with g<jats:italic>BRCA1<\/jats:italic> mutations located in the OCCR, 11 (40.7%) had a family history of ovarian cancer; the proportion of patients with a family history of ovarian cancer and <jats:italic>gBRCA1<\/jats:italic> mutations outside the OCCR was lower (13.3%). Sixty percent of patients with g<jats:italic>BRCA1<\/jats:italic> mutations outside the OCCR had a family history of breast cancer; the proportion of patients with a family history of breast cancer and g<jats:italic>BRCA1<\/jats:italic> mutations within the OCCR was relatively lower (33.3%). Understanding the mutation locations may contribute to more accurate risk assessments of susceptible individuals and early detection of ovarian cancer among g<jats:italic>BRCA<\/jats:italic> mutation carriers.<\/jats:p>","DOI":"10.1111\/cas.14513","type":"journal-article","created":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T06:14:03Z","timestamp":1591251243000},"page":"3350-3358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Association of g<i>BRCA1\/2<\/i> mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study"],"prefix":"10.1111","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2254-3378","authenticated-orcid":false,"given":"Kosuke","family":"Yoshihara","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoh","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Tohoku Medical and Pharmaceutical University Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junzo","family":"Kigawa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Matsue City Hospital Matsue Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Gynecology Cancer Institute Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyoe","family":"Inomata","sequence":"additional","affiliation":[{"name":"Medical Department AstraZeneca K.K. Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kana","family":"Hattori","sequence":"additional","affiliation":[{"name":"Medical Department AstraZeneca K.K. Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahisa","family":"Jinushi","sequence":"additional","affiliation":[{"name":"Medical Department AstraZeneca K.K. Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Department of Basic Pathology National Defense Medical College Tokorozawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Sugiyama","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology St. Mary's Hospital Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.29210"},{"key":"e_1_2_9_3_1","unstructured":"HowladerN NooneAM KrapchoM et al.SEER Cancer Statistics Review 1975\u20132014.Bethesda MD:National Cancer Institute.https:\/\/seer.cancer.gov\/csr\/1975_2014\/ based on November 2016 SEER data submission posted to the SEER web site April 2017."},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2004.tb02195.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2006.12.009"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2010.33.0068"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.7112"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.02.7888"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.5985"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa070608"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GCO.0b013e328332dca3"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2007.55-a"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.24200"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41416-018-0127-5"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/ijgc-2019-000384"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1810858"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon-2019-0057"},{"key":"e_1_2_9_18_1","first-page":"3144","article-title":"Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population","volume":"7","author":"Sekine M","year":"2001","journal-title":"Clin Cancer Res"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06581-8"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.2000"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/318181"}],"container-title":["Cancer Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cas.14513","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cas.14513","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cas.14513","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T14:22:16Z","timestamp":1693923736000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cas.14513"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,2]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/cas.14513"],"URL":"https:\/\/doi.org\/10.1111\/cas.14513","archive":["Portico"],"relation":{},"ISSN":["1347-9032","1349-7006"],"issn-type":[{"value":"1347-9032","type":"print"},{"value":"1349-7006","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,2]]},"assertion":[{"value":"2020-02-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}