Çeçener, GülşahEgeli, ÜnalTunca, BerrinErtürk, ElifAk, SeçilGökgöz, ŞehsuvarTaşdelen, İsmetTezcan, GülçinDemirdoğen, ElifBayram, NuranAvcı, NilüferEvrensel, Türkkan2024-08-152024-08-152014-10-010735-7907https://doi.org/10.3109/07357907.2014.919302https://www.tandfonline.com/doi/full/10.3109/07357907.2014.919302https://hdl.handle.net/11452/44075BRCA1/BRCA2 genes were screened in 117 patients with breast cancer by sequencing. Fourteen percent of patients tested positive for BRCA1/BRCA2 mutations. Four frame shift mutations, four pathogenic missense mutations, and 25 different sequence variations were detected. BRCA mutation positivity was significantly associated with Ki67 (p =.001). BRCA protein expressions were decreased in the patients harboring important mutations and polymorphisms (BRCA1; P508stop, V1740G, Q1182R, Q1756P and BRCA2; V2466A) related with disease. Our findings contribute significantly to the types of germline BRCA1/BRCA2 mutations and their biological effects in Turkish women. These data could help guide the management of BRCA1/BRCA2 mutation-carrying patients when considering breast-conserving therapy.enAnd/or ovarian-cancerFounder mutationsGene-mutationsFamiliesWomenPopulationFrequency185delagPenetrancePrevalenceBreast cancerBrca1/brca2 geneA-gvgdHsfBrcaproScience & technologyLife sciences & biomedicineOncologyArticle00034199340000137538732810.3109/07357907.2014.9193021532-4192