{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:49:58Z","timestamp":1789156198755,"version":"build-2803163510"},"reference-count":36,"publisher":"Termedia Sp. z.o.o.","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pol J Pathol"],"abstract":"<jats:p>Although BRCA genes are well-known breast cancer genes, the\u00a0clinicopathological features of\u00a0breast cancer patients carrying BRCA1\/2 pathogenic variants have not been adequately defined. The\u00a0goals of\u00a0this study were to determine the\u00a0distribution of\u00a0BRCA1\/2 variants in the\u00a0Turkish population and its correlation with clinicopathological features.&lt;br \/&gt;\nClinical data of\u00a0151 women who underwent BRCA1\/2 gene testing at Mersin University Medical Faculty Hospital between 2016 and 2019 were retrospectively analyzed. BRCA1\/2 variants were detected as pathogenic (n = 11), variants of\u00a0uncertain significance (n = 5), likely benign (n = 3), and benign (n = 81) in breast cancer cases. &lt;br \/&gt;\nThe\u00a0BRCA1\/2 pathogenic variant carriers had a\u00a0higher histological grade, rate of\u00a0triple- negative type, Ki-67 proliferation index, and rate of\u00a0no special type carcinoma than the\u00a0group without mutation (p = 0.03, 0.01, 0.04, and 0.02 respectively). &lt;br \/&gt;\nWe analyzed the\u00a0distribution of\u00a0variants we detected in women living in our region and found that pathogenic variants in patients with breast cancer were associated with high histological grade, triple-negative type, high Ki-67 proliferation index, and histological type. Studies in diverse populations are needed to establish a\u00a0clinicopathological relationship with variants more easily.<\/jats:p>","DOI":"10.5114\/pjp.2024.135703","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T03:23:52Z","timestamp":1709177032000},"page":"1-7","source":"Crossref","is-referenced-by-count":3,"title":["Clinicopathological characteristics and BRCA1\/BRCA2 pathogenic variants of\u00a0patients with breast cancer"],"prefix":"10.5114","volume":"75","author":[{"given":"Nazan","family":"Eras","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferah","family":"Tuncel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuhal","family":"Alt\u0131ntas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema","family":"Erden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"ref-1689740","doi-asserted-by":"crossref","unstructured":"Mehiret G, Molla A, Tesfaw A. 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