Publication:
Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

dc.contributor.buuauthorPirim, Dilek
dc.contributor.buuauthorKaya, Niyazi
dc.contributor.buuauthorYıldırım, Elif Uz
dc.contributor.buuauthorSağ, Şebnem Özemri
dc.contributor.buuauthorTemel, Şehime Gülsün
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentFen Edebiyat Fakültesi
dc.contributor.departmentFen Bilimleri Enstitüsü
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.departmentMoleküler Biyoloji ve Genetik Bölümü
dc.contributor.departmentMoleküler Biyoloji ve Genetik Ana Bilim Dalı
dc.contributor.orcid0000-0002-0522-9432
dc.contributor.orcid0000-0002-9802-0880
dc.contributor.researcheridABA-4957-2020
dc.contributor.researcheridFEL-0562-2022
dc.contributor.researcheridAAB-4296-2021
dc.contributor.researcheridAAH-8355-2021
dc.contributor.researcheridAAG-8385-2021
dc.contributor.scopusid55978575700
dc.contributor.scopusid57217533949
dc.contributor.scopusid13807893000
dc.contributor.scopusid36638231300
dc.contributor.scopusid6507885442
dc.date.accessioned2023-10-23T12:33:19Z
dc.date.available2023-10-23T12:33:19Z
dc.date.issued2020-11-01
dc.description.abstractPathogenic variants in the coding regions of the BRCA1/2 lead dysfunctional or nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to BRCA-related disease risk has not been fully elucidated. Thus, we characterized the functional impact of both coding and non-coding BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. The data were produced by resequencing the exons and exon-intron junctions of the BRCA1/2 in 125 individuals and were comprehensively analyzed by using bioinformatics tools and databases. A total of 96 variants (59 coding and 37 non-coding) including 7 novel variants were identified and analyzed for their functional importance. We identified 11 missense variants that potentially affect protein function; 22 variants were likely to alter different types of posttranslational modifications. Also, multiple non-coding BRCA1/2 variants were found to reside in the critical regulatory regions that have the potential to act as eQTLs and affect alternative splicing. The results of our study shed light on the possible contributions of not only coding variants but also non-coding BRCA1/2 variants in BRCRA-related cancers. Further investigation is required to fully understand their potential associations with phenotypes which may ultimately lead their utilization on cancer management as a biomarker.
dc.identifier.citationPirim, D. vd. (2020). "Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers". International Journal of Biological Macromolecules, 162, 1166-1177.
dc.identifier.endpage1177
dc.identifier.issn0141-8130
dc.identifier.issn1879-0003
dc.identifier.pubmed32599251
dc.identifier.scopus2-s2.0-85087354281
dc.identifier.startpage1166
dc.identifier.urihttps://doi.org/10.1016/j.ijbiomac.2020.06.222
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S0141813020336758
dc.identifier.urihttp://hdl.handle.net/11452/34528
dc.identifier.volume162
dc.identifier.wos000577953700026
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherElsevier
dc.relation.journalInternational Journal of Biological Macromolecules
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBiochemistry & molecular biology
dc.subjectChemistry
dc.subjectPolymer science
dc.subjectBRCA1/2
dc.subjectIn silico analyses
dc.subjectNon-coding variants
dc.subjectBRCA-related cancer
dc.subjectNext-generation sequencing
dc.subjectGermline variants
dc.subjectGenetic-variants
dc.subjectBreast
dc.subjectMutations
dc.subjectAssociation
dc.subjectRisk
dc.subjectSusceptibility
dc.subjectPopulation
dc.subjectPrediction
dc.subjectProstate
dc.subject.emtreeBRCA1 protein
dc.subject.emtreeBRCA2 protein
dc.subject.emtreeRNA
dc.subject.emtreeTumor marker
dc.subject.emtreeBRCA1 protein, human
dc.subject.emtreeBRCA2 protein, human
dc.subject.emtreeAlternative RNA splicing
dc.subject.emtreeArticle
dc.subject.emtreeBioinformatics
dc.subject.emtreeBreast cancer
dc.subject.emtreeComputer model
dc.subject.emtreeExon
dc.subject.emtreeFamily history
dc.subject.emtreeFemale
dc.subject.emtreeGene frequency
dc.subject.emtreeGenetic database
dc.subject.emtreeGenetic variability
dc.subject.emtreeHigh throughput sequencing
dc.subject.emtreeHuman
dc.subject.emtreeIntron
dc.subject.emtreeMajor clinical study
dc.subject.emtreeMale
dc.subject.emtreeMissense mutation
dc.subject.emtreeOvary cancer
dc.subject.emtreePhenotype
dc.subject.emtreeProtein function
dc.subject.emtreeProtein processing
dc.subject.emtreeSequence analysis
dc.subject.emtreeTurkish citizen
dc.subject.emtreeComputer simulation
dc.subject.emtreeGenetics
dc.subject.emtreeMissense mutation
dc.subject.emtreeNeoplasm
dc.subject.emtreeProtein processing
dc.subject.meshBRCA1 Protein
dc.subject.meshBRCA2 Protein
dc.subject.meshComputer simulation
dc.subject.meshHumans
dc.subject.meshMutation, missense
dc.subject.meshNeoplasms
dc.subject.meshProtein processing, post-translational
dc.subject.scopusBRCA1 gene; Breast neoplasms; Germline mutation
dc.subject.wosBiochemistry & molecular biology
dc.subject.wosChemistry, applied
dc.subject.wosPolymer science
dc.titleCharacterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers
dc.typeArticle
dc.wos.quartileQ1
dspace.entity.typePublication
local.contributor.departmentFen Edebiyat Fakültesi/Moleküler Biyoloji ve Genetik Bölümü
local.contributor.departmentFen Bilimleri Enstitüsü/Moleküler Biyoloji ve Genetik Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

Files

License bundle

Now showing 1 - 1 of 1
Placeholder
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: