{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:37:58Z","timestamp":1747147078401,"version":"3.40.5"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T00:00:00Z","timestamp":1555113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>\u2009Abstract<\/jats:title><jats:p>Genetic testing for germline mutations in <jats:italic>BRCA1\/2<\/jats:italic> of patients with breast cancer (BC) is part of routine patient care. However, <jats:italic>BRCA1\/2<\/jats:italic> mutations account only for a fraction of familial BC. A custom panel of 22 gene sequencing was performed on each patient. Among the 481 female patients, 135 patients were detected to carry pathogenic (P)\/likely pathogenic (LP) mutations (28.1%), which corresponded to 12 different cancer predisposition genes [14.6% (70\/481) on <jats:italic>BRCA1<\/jats:italic> gene, 5.0% (24\/481) on <jats:italic>BRCA2 <\/jats:italic>gene, 8.5% (41\/481) on non\u2010<jats:italic>BRCA1\/2<\/jats:italic> genes]. Moreover, 24.7% (119\/481) of patients had mutation of unknown significance (VUS) in these genes. The most common (8\/481) pathogenic mutation is <jats:italic>BRCA1<\/jats:italic> c.5470_5477del, while <jats:italic>BRIP1<\/jats:italic> 2392 C\u00a0&gt;\u00a0T of patients was detected. All the mutations detected were mainly seen in the homologous recombinant repair pathway. Compared to <jats:italic>BRCA2<\/jats:italic> mutation, <jats:italic>BRCA1 <\/jats:italic>mutation is higher in younger female patients (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01). Some pathogenic mutations were detected in the patients\u2019 familiy members without the past history of tumor and 92 novel mutations were detected (31 on BRCA including 2 P, 16 LP, 13 VUS; 61 on non\u2010<jats:italic>BRCA1\/2 <\/jats:italic>including 9 LP, 52 VUS). The detection rate of <jats:italic>BRCA1\/2<\/jats:italic> mutations was higher in patients with three or more cancer family members than those with one or two. However, the difference was not statistically different. The results suggest that multigene panel testing can increase mutation detection rate for high\u2010risk BC patients. Detailed family history can help to categorize new mutations.<\/jats:p>","DOI":"10.1002\/cam4.2093","type":"journal-article","created":{"date-parts":[[2019,4,14]],"date-time":"2019-04-14T04:10:22Z","timestamp":1555215022000},"page":"2074-2084","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Germline mutation landscape of Chinese patients with familial breast\/ovarian cancer in a panel of 22 susceptibility genes"],"prefix":"10.1002","volume":"8","author":[{"given":"Jiayu","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Molecular Oncology, Department of Medical Oncology National Cancer Center\/Cancer Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8953-0790","authenticated-orcid":false,"given":"Weiwei","family":"Li","sequence":"additional","affiliation":[{"name":"Top Gene Tech (Guangzhou) Co., Ltd. Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujian","family":"Shi","sequence":"additional","affiliation":[{"name":"Top Gene Tech (Guangzhou) Co., Ltd. Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Chinese People's Liberation Army Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Liaoning Cancer Hospital Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Hunan Cancer Hospital Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery West China Hospital of Sichuan university Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiumo","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Breast The Third Hospital of Nanchang Nanchang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Breast Guangdong General Hospital Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery The First Hospital of China Medical university Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery SiChuan Cancer Hospital Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery Union Hospital of Tongji Medical College, Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Breast Surgery The First affiliated Hospital of bengbu medical college Benghu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danmei","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of breast cancer oncology Foshan Hospital of Sun Yat\u2010Sen Unversity Foshan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shusen","family":"Wang","sequence":"additional","affiliation":[{"name":"Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peizhi","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Breast Xiangya Hospital of Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Breast Hubei Cancer Hospital Benghu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Breast the First affiliated Hospital of Sun Yat\u2010Sen Unversity Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Qin","sequence":"additional","affiliation":[{"name":"Top Gene Tech (Guangzhou) Co., Ltd. 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