Yıldız Tacar, SeherBozgeyik, EsraŞeber, Erdoğan SelçukYetişyiğit, TarkanTozkır, HilmiAvcı, OkanArslan, Ahmet2022-05-112022-05-1120200024-3205https://doi.org/10.1016/j.lfs.2020.118334https://hdl.handle.net/20.500.11776/4450Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established method of choice for the assessment of developing breast cancer. Accordingly, here we aimed to report novel BRCA1/2 variations and distribution of previously known mutations and their association with the clinical course of breast cancer disease. A total of 287 breast cancer patients were enrolled from January 2017 through December 2019. Of these patients, 50 of them were identified to be positive for BRCA1/2. Next Generation Sequencing analysis was performed for the screening of exonic and intronic variations of BRCA1/BRCA2 genes. Notably, novel variations of 4448 G > A (Ser1843Asn) in BRCA1, and 982dupA (Thr328AspfsTer) and 7588C > T (Gln2530Ter) in BRCA2 gene were identified. The most common variations in BRCA1 gene were 5152 + 66G > A, 442-34C > T and 5266dupC. In BRCA2 gene, the most common variations were 9097dupA, 67 + 1G > A and 1114A > C. Novel variations of BRCA1 and BRCA2 genes were identified in breast cancer and might be useful predisposing factors in breast cancer diagnosis. © 2020 Elsevier Inc.en10.1016/j.lfs.2020.118334info:eu-repo/semantics/closedAccessBRCA1BRCA2Breast cancerNext generation sequencingNGSasparagineaspartic acidBRCA1 proteinBRCA2 proteinepidermal growth factor receptor 2estrogen receptorglycineKi 67 antigenprogesterone receptorserinethreonineBRCA1 proteinBRCA1 protein, humanBRCA2 proteinBRCA2 protein, humanadultamino acid substitutionArticlebreast cancercancer patientcancer susceptibilitydisease courseexonfamily historyfemalegene duplicationgene mutationgenetic associationgenetic variationhigh throughput sequencinghumanintronmajor clinical studymalemiddle agedtumor suppressor geneadolescentagedbreast tumorgenetic predispositiongeneticsmutationpathologyyoung adultAdolescentAdultAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMiddle AgedMutationYoung AdultArticle261Q1WOS:0005882909000122-s2.0-8509034134232846166Q1