Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer

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dc.authorscopusid57218826447
dc.authorscopusid56497061100
dc.authorscopusid57218822513
dc.authorscopusid8666331800
dc.authorscopusid6504396778
dc.authorscopusid56082620300
dc.authorscopusid56468900300
dc.contributor.authorYıldız Tacar, Seher
dc.contributor.authorBozgeyik, Esra
dc.contributor.authorŞeber, Erdoğan Selçuk
dc.contributor.authorYetişyiğit, Tarkan
dc.contributor.authorTozkır, Hilmi
dc.contributor.authorAvcı, Okan
dc.contributor.authorArslan, Ahmet
dc.date.accessioned2022-05-11T14:02:43Z
dc.date.available2022-05-11T14:02:43Z
dc.date.issued2020
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Radyasyon Onkolojisi Ana Bilim Dalı
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractMutations 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.
dc.identifier.doi10.1016/j.lfs.2020.118334
dc.identifier.issn0024-3205
dc.identifier.pmid32846166
dc.identifier.scopus2-s2.0-85090341342
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1016/j.lfs.2020.118334
dc.identifier.urihttps://hdl.handle.net/20.500.11776/4450
dc.identifier.volume261
dc.identifier.wosWOS:000588290900012
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorYıldız Tacar, Seher
dc.institutionauthorBozgeyik, Esra
dc.institutionauthorTozkır, Hilmi
dc.language.isoen
dc.publisherElsevier Inc.
dc.relation.ispartofLife Sciences
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectBreast cancer
dc.subjectNext generation sequencing
dc.subjectNGS
dc.subjectasparagine
dc.subjectaspartic acid
dc.subjectBRCA1 protein
dc.subjectBRCA2 protein
dc.subjectepidermal growth factor receptor 2
dc.subjectestrogen receptor
dc.subjectglycine
dc.subjectKi 67 antigen
dc.subjectprogesterone receptor
dc.subjectserine
dc.subjectthreonine
dc.subjectBRCA1 protein
dc.subjectBRCA1 protein, human
dc.subjectBRCA2 protein
dc.subjectBRCA2 protein, human
dc.subjectadult
dc.subjectamino acid substitution
dc.subjectArticle
dc.subjectbreast cancer
dc.subjectcancer patient
dc.subjectcancer susceptibility
dc.subjectdisease course
dc.subjectexon
dc.subjectfamily history
dc.subjectfemale
dc.subjectgene duplication
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjectgenetic variation
dc.subjecthigh throughput sequencing
dc.subjecthuman
dc.subjectintron
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmiddle aged
dc.subjecttumor suppressor gene
dc.subjectadolescent
dc.subjectaged
dc.subjectbreast tumor
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectmutation
dc.subjectpathology
dc.subjectyoung adult
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectBRCA1 Protein
dc.subjectBRCA2 Protein
dc.subjectBreast Neoplasms
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectYoung Adult
dc.titleNext generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
dc.typeArticle

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