Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients

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dc.contributor.authorEskiler, Gamze Güney
dc.contributor.buuauthorÇeçener, Gülşah
dc.contributor.buuauthorTakanlou, Leila Sabour
dc.contributor.buuauthorTakanlou, Maryam Sabour
dc.contributor.buuauthorEgeli, Ünal
dc.contributor.buuauthorAksoy, Seçil
dc.contributor.buuauthorÜnal, Ufuk
dc.contributor.buuauthorTezcan, Havva
dc.contributor.buuauthorEryılmaz, Işıl Ezgi
dc.contributor.buuauthorGökgöz, Mustafa Şehsuvar
dc.contributor.buuauthorTunca, Berrin
dc.contributor.buuauthorÇubukçu, Erdem
dc.contributor.buuauthorEvrensel, Türkkan
dc.contributor.buuauthorÇetintaş, Sibel
dc.contributor.buuauthorTaşdelen, İsmet
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.tr_TR
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı.tr_TR
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Radyasyon Onkolojisi Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-3820-424Xtr_TR
dc.contributor.orcid0000-0001-7904-883Xtr_TR
dc.contributor.orcid0000-0002-3760-9755tr_TR
dc.contributor.orcid0000-0003-4913-3616tr_TR
dc.contributor.orcid0000-0002-3316-316Xtr_TR
dc.contributor.orcid0000-0002-1619-6680tr_TR
dc.contributor.orcid0000-0002-9732-5340tr_TR
dc.contributor.researcheridGGI-6227-2022tr_TR
dc.contributor.researcheridEAS-6830-2022tr_TR
dc.contributor.researcheridGYU-0252-2022tr_TR
dc.contributor.researcheridEWY-5692-2022tr_TR
dc.contributor.researcheridETP-1691-2022tr_TR
dc.contributor.researcheridEOI-5652-2022tr_TR
dc.contributor.researcheridEBN-1186-2022tr_TR
dc.contributor.scopusid6508156530tr_TR
dc.contributor.scopusid57211585974tr_TR
dc.contributor.scopusid57211582304tr_TR
dc.contributor.scopusid55665145000tr_TR
dc.contributor.scopusid57193933334tr_TR
dc.contributor.scopusid57211584917tr_TR
dc.contributor.scopusid57211580953tr_TR
dc.contributor.scopusid57189380840tr_TR
dc.contributor.scopusid57203870909tr_TR
dc.contributor.scopusid6602965754tr_TR
dc.contributor.scopusid53986153800tr_TR
dc.contributor.scopusid6603942124tr_TR
dc.contributor.scopusid6505881756tr_TR
dc.contributor.scopusid9637821500tr_TR
dc.date.accessioned2023-01-30T06:11:24Z
dc.date.available2023-01-30T06:11:24Z
dc.date.issued2019-10-14
dc.description.abstractThe aim of this study was to identify the frequency and spectrum of germline BRCA1/2 pathogenic alterations in a cohort of patients with breast carcinoma. In this study, a total of 603 breast cancer subjects from Turkey were screened for BRCA1/BRCA2 mutations using HDA and Sanger sequencing. In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer. Analysis of overall survival for BRCA1/BRCA2 mutation carriers showed a trend for poor overall survival only in BRCA1 carriers, although this was not statistically significant in BRCA1 and BRCA2 mutation carriers. The c.5266dupC mutation is one of the most frequently reported mutations in BRCA1 and was identified in five breast cancer patients in our study. The most common BRCA2 gene mutations in the present study were c.8940delA and c.9097dupA, which were found in seven patients. We found mostly BRCA1 and BRCA2 mutation carriers in those patients who showed hormone-positive features. In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.en_US
dc.identifier.citationÇeçener, G. vd. (2020). "Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients". Cancer Genetics, 240, 23-32.en_US
dc.identifier.endpage32tr_TR
dc.identifier.issn2210-7762
dc.identifier.issn2210-7770
dc.identifier.pubmed31706072tr_TR
dc.identifier.scopus2-s2.0-85074537533tr_TR
dc.identifier.startpage23tr_TR
dc.identifier.urihttps://doi.org/10.1016/j.cancergen.2019.10.004
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S2210776219303357
dc.identifier.urihttp://hdl.handle.net/11452/30698
dc.identifier.volume240tr_TR
dc.identifier.wos000518200000004tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherElsevier Scienceen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.journalCancer Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBreast canceren_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectPathogenic mutationsen_US
dc.subjectVariant of uncertain significanceen_US
dc.subjectOvarian-canceren_US
dc.subjectGermline mutationsen_US
dc.subjectTumor characteristicsen_US
dc.subjectPhysical-activityen_US
dc.subjectRisken_US
dc.subjectPopoulationen_US
dc.subjectPrevalenceen_US
dc.subjectWomenen_US
dc.subjectAssociationsen_US
dc.subjectVairantsen_US
dc.subjectOncologyen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeBRCA1 proteinen_US
dc.subject.emtreeBRCA1 protein, humanen_US
dc.subject.emtreeBRCA2 proteinen_US
dc.subject.emtreeBRCA2 protein, humanen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBreast carcinomaen_US
dc.subject.emtreeCancer gradingen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeCohort analysisen_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeFamily historyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene frequencyen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic associationen_US
dc.subject.emtreeGenetic screeningen_US
dc.subject.emtreeGenetic traiten_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeHeteroduplex analysisen_US
dc.subject.emtreeHeterozygoteen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman epidermal growth factor receptor 2 positive breast canceren_US
dc.subject.emtreeLuminal A breast canceren_US
dc.subject.emtreeLuminal B breast canceren_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMiddle ageden_US
dc.subject.emtreeOvary canceren_US
dc.subject.emtreeOverall survivalen_US
dc.subject.emtreePathogenicityen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeSanger sequencingen_US
dc.subject.emtreeTriple negative breast canceren_US
dc.subject.emtreeTumor suppressor geneen_US
dc.subject.emtreeTumor volumeen_US
dc.subject.emtreeTurkey (republic)en_US
dc.subject.emtreeBreasten_US
dc.subject.emtreeBreast tumoren_US
dc.subject.emtreeDisease free survivalen_US
dc.subject.emtreeDna mutational analysisen_US
dc.subject.emtreeEpidemiologyen_US
dc.subject.emtreeFollow upen_US
dc.subject.emtreeGenetic predispositionen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeGermline mutationen_US
dc.subject.emtreeKaplan Meier methoden_US
dc.subject.emtreeMortalityen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePathologyen_US
dc.subject.emtreeTurkey (bird)en_US
dc.subject.meshAdulten_US
dc.subject.meshBRCA1 proteinen_US
dc.subject.meshBRCA2 proteinen_US
dc.subject.meshBreasten_US
dc.subject.meshBreast neoplasmsen_US
dc.subject.meshBreast neoplasms, maleen_US
dc.subject.meshDisease-free survivalen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-up studiesen_US
dc.subject.meshGenetic predisposition to diseaseen_US
dc.subject.meshGerm-line mutationen_US
dc.subject.meshHumansen_US
dc.subject.meshKaplan-meier estimateen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle ageden_US
dc.subject.meshMutationen_US
dc.subject.meshTurkeyen_US
dc.subject.scopusBRCA1 Gene; Breast Neoplasms; Germline Mutationen_US
dc.subject.wosOncologyen_US
dc.subject.wosGenetics & heredityen_US
dc.titleClinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patientsen_US
dc.typeArticle
dc.wos.quartileQ3 (Genetics & heredity)en_US
dc.wos.quartileQ4en_US

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