{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T09:06:01Z","timestamp":1785229561453,"version":"3.55.0"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"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 Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Germline mutations in <jats:italic>BRCA1\/2<\/jats:italic> are the most common cause of hereditary breast and ovarian cancer (HBOC) syndrome. Few studies published during the past decade reported the prevalence of germline <jats:italic>BRCA<\/jats:italic> mutations in Asian patients with breast cancer. We aimed to assess the prevalence and characteristics of Thai patients with breast cancer with germline <jats:italic>BRCA1\/2<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively reviewed all breast cancer patients who were tested for germline <jats:italic>BRCA1\/2<\/jats:italic> mutations during 2014\u20132018. <jats:italic>BRCA<\/jats:italic> mutations were detected using next\u2010generation sequencing and confirmed using Sanger sequencing. We analyzed the characteristics of patients with or without <jats:italic>BRCA<\/jats:italic> mutations. Disease\u2010free survival (DFS) and the associated factors were determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 67 patients, 12 (18%) were <jats:italic>BRCA1\/2<\/jats:italic> carriers (6 each), 4 (6%) harbored variants of uncertain significance, and 51 (76%) were non\u2010carriers. We discovered two novel <jats:italic>BRCA2<\/jats:italic> frameshift mutations (c.2380delA and c.8855dupT). Mean ages at breast cancer diagnosis of <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic>, and non\u2010carriers were 39.8, 46.2, and 42.0\u2009years, respectively. The 12 tumors of <jats:italic>BRCA<\/jats:italic> carriers were mainly the luminal\u2010B subtype. Two of these tumors were HER2\u2010positive luminal\u2010B, and the triple\u2010negative subtype was not detected. After adjusting for stages and luminal subtypes, <jats:italic>BRCA<\/jats:italic> carriers experienced worse 3\u2010year DFS than non\u2010carriers (81.5% vs. 90.3%, HR 2.04 [0.64\u20136.49], <jats:italic>p<\/jats:italic>\u00a0=\u00a0.229). The stage at diagnosis was the sole factor significantly associated with 3\u2010year DFS (100%, 84.8%, and 72.7%; stages I, II, and III, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Thai patients with breast cancer with <jats:italic>BRCA1\/2<\/jats:italic> mutations were mainly the luminal\u2010B subtypes with worse prognosis than those without mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cnr2.1664","type":"journal-article","created":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T06:35:11Z","timestamp":1656743711000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Characteristics of breast cancer patients tested for germline <i>BRCA1\/2<\/i> mutations by next\u2010generation sequencing in Ramathibodi Hospital, Mahidol University"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3036-2478","authenticated-orcid":false,"given":"Songporn","family":"Oranratnachai","sequence":"first","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Watchalawalee","family":"Yamkaew","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atchara","family":"Tunteeratum","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine, Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok 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