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Germline pathogenic variants (PVs) in <jats:italic>BRCA1\/2<\/jats:italic> are the most common genetic risk factor for breast cancer, associated with poor prognostic factors. This study sought to explore the patterns and outcome of CNS metastases in breast cancer patients with germline PVs in <jats:italic>BRCA<\/jats:italic>1\/2 genes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A retrospective cohort of 75 breast cancer patients with known <jats:italic>BRCA<\/jats:italic>1\/2 mutation status, who were diagnosed with CNS metastases in 2006\u20132021. Histopathology, characteristics of CNS disease, treatments, and survival were compared between <jats:italic>BRCA<\/jats:italic>1\/2 carriers (<jats:italic>n<\/jats:italic>\u2009=\u200925) and non-carriers (<jats:italic>n<\/jats:italic>\u2009=\u200950), using propensity score matching (1:2 ratio) to control for the possible influence of tumor receptor status (ER, PR, HER2) and patient age. Pearson chi-square or Fisher exact test and Kaplan-Meier survival curves with log-rank test were used for statistical analyses.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Patients with PVs in <jats:italic>BRCA1\/2<\/jats:italic> had more high-grade tumors (88% vs. 68%, <jats:italic>P<\/jats:italic>\u2009=\u20090.060), were younger at CNS disease diagnosis (median 46.69 vs. 55.02\u2009years, <jats:italic>P<\/jats:italic>\u2009=\u20090.003) and had better ECOG performance status (ECOG PS 0 in 20% vs. 2%, <jats:italic>P<\/jats:italic>\u2009=\u20090.033), but without significant differences in systemic or CNS-directed treatment approaches. <jats:italic>BRCA<\/jats:italic>1\/2 mutation was associated with a higher rate of temporal lobe involvement (52% vs. 26%, <jats:italic>P<\/jats:italic>\u2009=\u20090.026) and leptomeningeal spread (40% vs. 20%, <jats:italic>P<\/jats:italic>\u2009=\u20090.020). Survival after diagnosis of CNS disease was shorter (median 8.03 vs. 28.36\u2009months, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001), with no significant differences in time to development of CNS metastases or overall-survival.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Patients with CNS metastatic breast cancer and PVs in <jats:italic>BRCA1\/2<\/jats:italic> showed a higher rate of leptomeningeal and temporal lobe involvement, and a shorter survival with CNS disease. To the best of our knowledge, this is the first study suggesting an exclusive impact of germline <jats:italic>BRCA<\/jats:italic>1\/2 mutations in CNS metastatic breast cancer.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12885-024-11975-7","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T06:02:41Z","timestamp":1708063361000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis"],"prefix":"10.1186","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6089-2467","authenticated-orcid":false,"given":"Matan","family":"Ben-Zion Berliner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shlomit","family":"Yust-Katz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inbar","family":"Lavie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inbal","family":"Kedar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rinat","family":"Yerushalmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"issue":"17","key":"11975_CR1","doi-asserted-by":"publisher","first-page":"3608","DOI":"10.1200\/JCO.2004.01.175","volume":"22","author":"NU Lin","year":"2004","unstructured":"Lin NU, Bellon JR, Winer EP. 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