{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T22:41:40Z","timestamp":1777675300873,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","award":["03143406"],"award-info":[{"award-number":["03143406"]}],"id":[{"id":"10.13039\/501100005847","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ovarian and breast cancers are known to have significant genetic components. Considering the differences in the mutation spectrum across ethnicity, it is important to identify hereditary breast and ovarian cancer (HBOC) genes mutation in Chinese for clinical management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two cohorts of 451 patients with ovarian cancer only (OV) and 93 patients with both breast and ovarian (BROV) cancers were initially screened for <jats:italic>BRCA1, BRCA2, TP53<\/jats:italic>, and <jats:italic>PTEN<\/jats:italic>. 109 OV and 43 BROV patients with extensive clinical risk and were being tested negative, were then further characterized by 30\u2010gene panel analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic <jats:italic>BRCA1\/2<\/jats:italic> variants were identified in 45 OV patients and 33 BROV patients, giving a prevalence of 10% and 35.5%, respectively. After the extended screening, mutations in other HBOC genes were identified in an additional 12.8% (14\/109) of the OV cohort and 14% (6\/43) in the BROV cohort. The most commonly mutated genes in the OV cohort were <jats:italic>MSH2<\/jats:italic> (4.6%) while in the BROV cohort were <jats:italic>MSH2<\/jats:italic> (4.7%) and <jats:italic>PALB2<\/jats:italic> (4.7%). With this extended multigene testing strategy, pathogenic mutations were detected in 12.8% of OV patients (<jats:italic>BRCA<\/jats:italic>s: 10%; additional genes: 12.8%) and 40.9% (<jats:italic>BRCA<\/jats:italic>s: 35.5%; additional genes: 14%) of BROV patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Extended characterization of the contributions of HBOC genes to OV and BROV patients has significant impacts on further management in patients and their families, expanding the screening net for more asymptomatic individuals.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1940","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T09:51:48Z","timestamp":1653385908000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Germline mutations in Chinese ovarian cancer with or without breast cancer"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6968-9489","authenticated-orcid":false,"given":"Ava","family":"Kwong","sequence":"first","affiliation":[{"name":"Department of Surgery The University of Hong Kong  Pofulam Hong Kong SAR"},{"name":"Department of Surgery University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Department of Surgery Hong Kong Sanatorium &amp; 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