{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T17:14:48Z","timestamp":1788369288992,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Science"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association between germline <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> pathogenic variants (mutations: g<jats:italic>BRCA<\/jats:italic>m) and ovarian cancer risk is well established. Germline testing alone cannot detect somatic <jats:italic>BRCA1\/2<\/jats:italic> pathogenic variants (s<jats:italic>BRCA<\/jats:italic>m), which is calculated based on the proportion of tumor <jats:italic>BRCA<\/jats:italic>m (t<jats:italic>BRCA<\/jats:italic>m) from tumor samples and g<jats:italic>BRCA<\/jats:italic>m. Homologous recombination deficiency (HRD) results mainly from genetic\/epigenetic alterations in homologous recombination repair\u2010related genes and can be evaluated by genomic instability status. In Japan, the prevalence of t<jats:italic>BRCA<\/jats:italic>m, s<jats:italic>BRCA<\/jats:italic>m, and HRD remains unclear. This multicenter, cross\u2010sectional, observational study, CHaRacterIzing the croSs\u2010secTional approach to invEstigate the prevaLence of tissue <jats:italic>BRCA1\/2<\/jats:italic> mutations in newLy diagnosEd advanced ovarian cancer patients (CHRISTELLE), evaluated the prevalence of t<jats:italic>BRCA<\/jats:italic>m, s<jats:italic>BRCA<\/jats:italic>m, and HRD in tumor specimens from newly diagnosed patients with ovarian cancer who underwent g<jats:italic>BRCA<\/jats:italic> testing. Of the 205 patients analyzed, 26.8% had a t<jats:italic>BRCA<\/jats:italic>m, including t<jats:italic>BRCA1<\/jats:italic>m (17.6%) and t<jats:italic>BRCA2<\/jats:italic>m (9.3%). The overall prevalence of t<jats:italic>BRCA<\/jats:italic>m, g<jats:italic>BRCA<\/jats:italic>m, s<jats:italic>BRCA<\/jats:italic>m, and HRD\u2010positive status was 26.8%, 21.5%, 6.3%, and 60.0%, respectively. The calculated s<jats:italic>BRCA<\/jats:italic>m\/t<jats:italic>BRCA<\/jats:italic>m ratio was 23.6% (13\/55), and the prevalence of g<jats:italic>BRCA<\/jats:italic> variant of uncertain significance was 3.9%. These results suggest g<jats:italic>BRCA<\/jats:italic> testing alone cannot clearly identify the best course of treatment, highlighting the importance of s<jats:italic>BRCA<\/jats:italic> testing in Japan. The present results also suggest that testing for t<jats:italic>BRCA<\/jats:italic> and HRD should be encouraged in advanced ovarian cancer patients to drive precision medicine.<\/jats:p>","DOI":"10.1111\/cas.15518","type":"journal-article","created":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T13:58:12Z","timestamp":1660744692000},"page":"271-280","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Japanese nationwide observational multicenter study of tumor <i>BRCA1<\/i>\/<i>2<\/i> variant testing in advanced ovarian cancer"],"prefix":"10.1111","volume":"114","author":[{"given":"Katsutoshi","family":"Oda","sequence":"first","affiliation":[{"name":"Division of Integrative Genomics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9596-8326","authenticated-orcid":false,"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":"Hitoshi","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Department of Basic Pathology National Defense Medical College  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Nishihara","sequence":"additional","affiliation":[{"name":"Keio Cancer Center Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisanori","family":"Aoyama","sequence":"additional","affiliation":[{"name":"Medical Department AstraZeneca K.K.  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