{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T20:20:19Z","timestamp":1793910019737,"version":"4.8.0"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T00:00:00Z","timestamp":1493078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81672601"],"award-info":[{"award-number":["81672601"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>To characterize the prevalence of <jats:italic>BRCA<\/jats:italic> mutations and characteristics of <jats:italic>BRCA<\/jats:italic> carriers in China and to update the clinical recommendations for <jats:italic>BRCA<\/jats:italic> testing, we conducted a wide screen for <jats:italic>BRCA<\/jats:italic> mutations using next\u2010generation sequencing (NGS). A total of 4,034 Chinese subjects were screened for germline <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> mutations, including 2,991 breast cancer patients and 1,043 healthy individuals from the community enrolled as controls. We developed an NGS\u2010based approach to perform <jats:italic>BRCA1\/2<\/jats:italic> screening. <jats:italic>BRCA<\/jats:italic> mutations were identified in 9.1% (232\/2,560) of cases with at least one risk factor, in 3.5% (15\/431) of sporadic patients and in 0.38% (4\/1,043) of healthy controls. The mutation frequency ranged from 8.9 to 15.2% in cohorts with a single risk factor to 16.6\u2013100% in groups with multiple risk factors. We identified 70 novel <jats:italic>BRCA<\/jats:italic> mutations. A high frequency of <jats:italic>BRCA1<\/jats:italic> c.5470_5477del was detected, accounting for 13.9% (16\/115) of the <jats:italic>BRCA1<\/jats:italic> mutations detected in our study. Clinical characteristics such as family history, invasive carcinoma, negative human epidermal growth factor receptor 2 (HER2), high Ki67 index, lymph node status, and high tumour grade were closely related to <jats:italic>BRCA<\/jats:italic> mutations. <jats:italic>BRCA2<\/jats:italic> carriers had poorer disease\u2010free survival among HER2\u2010 or hormone receptor\u2010positive patients (hazard ratio\u00a0=\u00a01.892; 95% confidence interval: 1.132\u20133.161; <jats:italic>p<\/jats:italic>\u00a0=\u00a00.013). This study shows that <jats:italic>BRCA<\/jats:italic> mutation carriers could be frequently identified among breast cancer patients with multiple risk factors. Importantly, we established an NGS\u2010based pipeline for <jats:italic>BRCA1\/2<\/jats:italic> testing in clinical practice and strongly suggest that breast cancer patients of premier\u2010 and moderate\u2010grade risks receive <jats:italic>BRCA1\/2<\/jats:italic> mutations testing in China.<\/jats:p>","DOI":"10.1002\/ijc.30692","type":"journal-article","created":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T21:10:33Z","timestamp":1489525833000},"page":"129-142","source":"Crossref","is-referenced-by-count":93,"title":["The spectrum of BRCA mutations and characteristics of BRCA\u2010associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next\u2010generation sequencing"],"prefix":"10.1002","volume":"141","author":[{"given":"Guan\u2010Tian","family":"Lang","sequence":"first","affiliation":[{"name":"Department of Breast Surgery Key Laboratory of Breast Cancer in Shanghai, Fudan University Shanghai Cancer Center Shanghai People's Republic of 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