{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T20:01:28Z","timestamp":1781640088903,"version":"3.54.5"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:00:00Z","timestamp":1773273600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100008678","name":"Universit\u00e4t Leipzig","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008678","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hered Cancer Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Breast cancer is the most common cancer among women worldwide. While lifestyle factors contribute to rising incidence, 5\u201314% of cases result from pathogenic variants in core susceptibility genes such as\n                      <jats:italic>BRCA1<\/jats:italic>\n                      , which also increases ovarian cancer risk and, in men, prostate cancer risk.\n                      <jats:italic>BRCA1<\/jats:italic>\n                      variants are typically autosomal dominant, making family history a key criterion for genetic testing under guidelines like HBOC or NCCN. Although usually inherited,\n                      <jats:italic>de novo BRCA1<\/jats:italic>\n                      pathogenic variants occur rarely; only twelve cases have been reported. We present a young woman with breast cancer without a significant family history, and a pathogenic\n                      <jats:italic>de novo BRCA1<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a 37-year-old woman with HER2-positive, ER\/PR-positive invasive breast cancer without relevant family history. After imaging-confirmed T1cN0M0 disease, she received neoadjuvant Her2-targeted chemotherapy, breast-conserving surgery, postneoadjuvant trastuzumab emtansine, radiotherapy, and ongoing endocrine therapy. Genetic testing by Next Generation Sequencing revealed a\n                      <jats:italic>BRCA1<\/jats:italic>\n                      frameshift variant (NM_007294.4:c.1335_1336del, p.(Arg446Serfs*9)) which was classified as pathogenic per ENIGMA\/ACMG guidelines. Absent from population databases and previously reported in cancer cases, it disrupts protein function. Cascade testing showed neither parent carried the variant; microsatellite analysis confirmed parentage, indicating a\n                      <jats:italic>de novo<\/jats:italic>\n                      pathogenic variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      A rare\n                      <jats:italic>de novo<\/jats:italic>\n                      <jats:italic>BRCA1<\/jats:italic>\n                      variant was identified in a young breast cancer patient. Such variants are likely underdiagnosed due to historical testing limitations and reliance on family history. This case highlights the importance of genetic testing and inclusion in hereditary cancer prevention programs, even without a family history.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13053-026-00333-2","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T02:55:23Z","timestamp":1773284123000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: a rare BRCA1 de novo variant in a female with breast cancer"],"prefix":"10.1186","volume":"24","author":[{"given":"Carlotta","family":"Dencker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Strehlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahriye","family":"Aktas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Lemke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hentschel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,12]]},"reference":[{"key":"333_CR1","doi-asserted-by":"crossref","unstructured":"Kim J, Harper A, McCormack V, Sung H, Houssami N, Morgan E, et al. 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Breast J. 2019;25(3):455\u2013460.","DOI":"10.1111\/tbj.13257"}],"container-title":["Hereditary Cancer in Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13053-026-00333-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13053-026-00333-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13053-026-00333-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T19:47:59Z","timestamp":1781639279000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13053-026-00333-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,12]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["333"],"URL":"https:\/\/doi.org\/10.1186\/s13053-026-00333-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-8589545\/v1","asserted-by":"object"}]},"ISSN":["1897-4287"],"issn-type":[{"value":"1897-4287","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,12]]},"assertion":[{"value":"13 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The studies were conducted in accordance with the local legislation and institutional requirements. Written informed consent for participation in this study was provided by the participant.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the individual for the publication of any potentially identifiable images or data included in this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"During the preparation of this work the authors used ChatGPT in order to improve language and readability of the work. After using this tool, the authors reviewed and edited the content as needed and take full responsibility for the content of the publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Generative AI and AI-assisted technologies in the writing process"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"6"}}