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Approximately 5\u201310% of cases involve pathogenic\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    variants, typically associated with early-onset, aggressive disease. This study aimed to determine the frequency and spectrum of\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    mutations among Kazakhstani breast cancer patients and to analyze their associations with clinicopathological features and survival outcomes. A total of 186 patients aged 21\u201390 years were examined between December 2023 and June 2024 using next-generation sequencing and retrospective chart review. The median age was 44 years for\n                    <jats:italic>BRCA1<\/jats:italic>\n                    , 48 for\n                    <jats:italic>BRCA2<\/jats:italic>\n                    , and 51 for\n                    <jats:italic>BRCA<\/jats:italic>\n                    -negative patients. Advanced disease (stages III-IV) was more common among mutation carriers (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). Pathogenic\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    variants were found in 22% and 9% of cases, respectively;\n                    <jats:italic>BRCA1<\/jats:italic>\n                    tumors were predominantly triple-negative (88%), whereas\n                    <jats:italic>BRCA2<\/jats:italic>\n                    tumors were mainly hormone receptor\u2013positive (65%). Both subtypes were largely poorly differentiated (61% and 53%, respectively). The median progression-free survival was 34, 12, and 8 months for\n                    <jats:italic>BRCA<\/jats:italic>\n                    -negative,\n                    <jats:italic>BRCA1<\/jats:italic>\n                    -, and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    -positive groups, respectively (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.001). To our knowledge, this is the first comprehensive analysis of\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    mutation profiles among Kazakhstani women, highlighting distinct genotype-phenotype correlations and supporting the need for personalized therapeutic strategies in this population.\n                  <\/jats:p>","DOI":"10.1038\/s41598-026-36086-0","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T07:04:20Z","timestamp":1768633460000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan"],"prefix":"10.1038","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2919-8212","authenticated-orcid":false,"given":"Ainur","family":"Samigatova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8756-1462","authenticated-orcid":false,"given":"Nursulu","family":"Altaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2629-7164","authenticated-orcid":false,"given":"Yerlan","family":"Suleimenov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2552-0323","authenticated-orcid":false,"given":"Petr","family":"Sibiryakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4304-5132","authenticated-orcid":false,"given":"Kuantkan","family":"Zhabagin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4943-1980","authenticated-orcid":false,"given":"Zhanar","family":"Zhakypbekkyzy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4931-6935","authenticated-orcid":false,"given":"Bakhytzhan","family":"Seksenbayev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3477-1260","authenticated-orcid":false,"given":"Noso","family":"Yoshihiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3170-9712","authenticated-orcid":false,"given":"Oxana","family":"Tsigengagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,17]]},"reference":[{"issue":"3","key":"36086_CR1","first-page":"229","volume":"74","author":"F Bray","year":"2024","unstructured":"Bray, F. et al. 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