dc.contributor.author | Yıldız Tacar, Seher | |
dc.contributor.author | Bozgeyik, Esra | |
dc.contributor.author | Şeber, Erdoğan Selçuk | |
dc.contributor.author | Yetişyiğit, Tarkan | |
dc.contributor.author | Tozkır, Hilmi | |
dc.contributor.author | Avcı, Okan | |
dc.contributor.author | Arslan, Ahmet | |
dc.date.accessioned | 2022-05-11T14:02:43Z | |
dc.date.available | 2022-05-11T14:02:43Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 0024-3205 | |
dc.identifier.uri | https://doi.org/10.1016/j.lfs.2020.118334 | |
dc.identifier.uri | https://hdl.handle.net/20.500.11776/4450 | |
dc.description.abstract | Mutations 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Elsevier Inc. | en_US |
dc.identifier.doi | 10.1016/j.lfs.2020.118334 | |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | BRCA1 | en_US |
dc.subject | BRCA2 | en_US |
dc.subject | Breast cancer | en_US |
dc.subject | Next generation sequencing | en_US |
dc.subject | NGS | en_US |
dc.subject | asparagine | en_US |
dc.subject | aspartic acid | en_US |
dc.subject | BRCA1 protein | en_US |
dc.subject | BRCA2 protein | en_US |
dc.subject | epidermal growth factor receptor 2 | en_US |
dc.subject | estrogen receptor | en_US |
dc.subject | glycine | en_US |
dc.subject | Ki 67 antigen | en_US |
dc.subject | progesterone receptor | en_US |
dc.subject | serine | en_US |
dc.subject | threonine | en_US |
dc.subject | BRCA1 protein | en_US |
dc.subject | BRCA1 protein, human | en_US |
dc.subject | BRCA2 protein | en_US |
dc.subject | BRCA2 protein, human | en_US |
dc.subject | adult | en_US |
dc.subject | amino acid substitution | en_US |
dc.subject | Article | en_US |
dc.subject | breast cancer | en_US |
dc.subject | cancer patient | en_US |
dc.subject | cancer susceptibility | en_US |
dc.subject | disease course | en_US |
dc.subject | exon | en_US |
dc.subject | family history | en_US |
dc.subject | female | en_US |
dc.subject | gene duplication | en_US |
dc.subject | gene mutation | en_US |
dc.subject | genetic association | en_US |
dc.subject | genetic variation | en_US |
dc.subject | high throughput sequencing | en_US |
dc.subject | human | en_US |
dc.subject | intron | en_US |
dc.subject | major clinical study | en_US |
dc.subject | male | en_US |
dc.subject | middle aged | en_US |
dc.subject | tumor suppressor gene | en_US |
dc.subject | adolescent | en_US |
dc.subject | aged | en_US |
dc.subject | breast tumor | en_US |
dc.subject | genetic predisposition | en_US |
dc.subject | genetics | en_US |
dc.subject | mutation | en_US |
dc.subject | pathology | en_US |
dc.subject | young adult | en_US |
dc.subject | Adolescent | en_US |
dc.subject | Adult | en_US |
dc.subject | Aged | en_US |
dc.subject | BRCA1 Protein | en_US |
dc.subject | BRCA2 Protein | en_US |
dc.subject | Breast Neoplasms | en_US |
dc.subject | Female | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | High-Throughput Nucleotide Sequencing | en_US |
dc.subject | Humans | en_US |
dc.subject | Middle Aged | en_US |
dc.subject | Mutation | en_US |
dc.subject | Young Adult | en_US |
dc.title | Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer | en_US |
dc.type | article | en_US |
dc.relation.ispartof | Life Sciences | en_US |
dc.department | Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Radyasyon Onkolojisi Ana Bilim Dalı | en_US |
dc.department | Fakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı | en_US |
dc.department | Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | en_US |
dc.identifier.volume | 261 | en_US |
dc.institutionauthor | Yıldız Tacar, Seher | |
dc.institutionauthor | Bozgeyik, Esra | |
dc.institutionauthor | Tozkır, Hilmi | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.authorscopusid | 57218826447 | |
dc.authorscopusid | 56497061100 | |
dc.authorscopusid | 57218822513 | |
dc.authorscopusid | 8666331800 | |
dc.authorscopusid | 6504396778 | |
dc.authorscopusid | 56082620300 | |
dc.authorscopusid | 56468900300 | |
dc.identifier.wos | WOS:000588290900012 | en_US |
dc.identifier.scopus | 2-s2.0-85090341342 | en_US |
dc.identifier.pmid | 32846166 | en_US |