Duzkale, NeslihanGuler, Onur CanKutun, SuatEmiroglu, CananSaridemir, SerdarGokce, AysunKandemir, Olcay2025-01-212025-01-2120241233-9687https://doi.org/10.5114/pjp.2024.142750https://hdl.handle.net/20.500.12587/23658The 5–10% of breast cancers (BC) are hereditary, and BRCA1/2 are causative in 25% of those inherited. It was aimed to examine the BRCA1/2 genotype-BC phenotype relationship. In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed. BRCA1/2 carriage was found to be 9.4%. When the patients were grouped as ? 40 and > 40 according to the age at diagnosis of BC, the tumour grade was higher in the ? 40 groups. In the study, BRCA1/2 carriage and tumour grade were higher in patients with triple-negative breast cancers (TNBC). The risk of TNBC was 5.560 times higher in BRCA1/2 carriers than in non-carriers. There is a significant relationship between BRCA1/2 carrier and BC hormone receptor negativity, tumour grade, and BC diagnosis age. © 2024, Termedia Publishing House Ltd.. All rights reserved.eninfo:eu-repo/semantics/openAccessBRCA1; BRCA2; breast cancer; oestrogen receptor; progesterone receptor; triple-negativeArticle75319220410.5114/pjp.2024.1427502-s2.0-8520736332439451174Q4