{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:34:00Z","timestamp":1784288040611,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T00:00:00Z","timestamp":1577750400000},"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":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP\u2010ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n\u00a0=\u00a0172) of individuals.\u00a0Twenty\u2010six of 176 mutations could not be retrieved in related public databases and were\u00a0considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides <jats:italic>BRCA1<\/jats:italic> (8; 25.8%) and <jats:italic>BRCA2<\/jats:italic> (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.<\/jats:p>","DOI":"10.1111\/cas.14242","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T18:38:50Z","timestamp":1574188730000},"page":"647-657","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high\u2010risk Chinese individuals"],"prefix":"10.1111","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-2074","authenticated-orcid":false,"given":"Di","family":"Shao","sequence":"first","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen Shenzhen China"},{"name":"BGI\u2010Guangzhou Medical Laboratory BGI\u2010Shenzhen Guangzhou 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