Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey

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dc.contributor.buuauthorÇeçener, Gülşah
dc.contributor.buuauthorEskiler, Gamze Güney
dc.contributor.buuauthorEgeli, Ünal
dc.contributor.buuauthorTunca, Berrin
dc.contributor.buuauthorAlemdar, Adem
dc.contributor.buuauthorGökgöz, Şehsuvar
dc.contributor.buuauthorTaşdelen, İsmet
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-3820-424Xtr_TR
dc.contributor.orcid0000-0002-2088-9914tr_TR
dc.contributor.orcid0000-0002-1619-6680tr_TR
dc.contributor.orcid0000-0001-7904-883Xtr_TR
dc.contributor.researcheridAAP-9988-2020tr_TR
dc.contributor.researcheridAAB-6011-2022tr_TR
dc.contributor.researcheridABI-6078-2020tr_TR
dc.contributor.researcheridHIZ-7332-2022tr_TR
dc.contributor.researcheridAAH-1420-2021tr_TR
dc.contributor.scopusid6508156530tr_TR
dc.contributor.scopusid57190947987tr_TR
dc.contributor.scopusid55665145000tr_TR
dc.contributor.scopusid6602965754tr_TR
dc.contributor.scopusid57190943001tr_TR
dc.contributor.scopusid6603238737tr_TR
dc.contributor.scopusid9637821500tr_TR
dc.date.accessioned2023-04-07T08:23:15Z
dc.date.available2023-04-07T08:23:15Z
dc.date.issued2016-08-16
dc.description.abstractThe PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer. In total, 223 Turkish patients with BRCA1/BRCA2 negative early-onset breast cancer and 60 unaffected women were included in the study. All the coding exons and intron/exon boundaries of PALB2 were subjected to mutational analysis by heteroduplex analysis (HDA) and DNA sequencing. Eighteen PALB2 variants were found in breast cancer patients within the Turkish population. Three variants (c.271G>A, c.404C>A and c.2981T>A) have not been previously reported. In addition, nine intronic variants were described, and this study is the first to describe the c.1685-44T>A intronic variant. The prevalence of possible pathogenic PALB2 variants was found to be 4.03 % in BRCA1/2-negative Turkish patients with early-onset breast cancer. Different variants of PALB2 have been reported in the literature, and the prevalence of these variants could different for each population. This is the first study to investigate the prevalence of PALB2 variants in Turkish patients with early-onset breast cancer.en_US
dc.description.sponsorshipBritish Association for Psychopharmacologyen_US
dc.identifier.citationÇeçener, G. vd. (2016). "Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey". Molecular Biology Reports, 43(11), 1273-1284.en_US
dc.identifier.endpage1284tr_TR
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue11tr_TR
dc.identifier.pubmed27573125tr_TR
dc.identifier.scopus2-s2.0-84984647071tr_TR
dc.identifier.startpage1273tr_TR
dc.identifier.urihttps://doi.org/10.1007/s11033-016-4061-4
dc.identifier.urihttps://link.springer.com/article/10.1007/s11033-016-4061-4
dc.identifier.urihttp://hdl.handle.net/11452/32250
dc.identifier.volume43tr_TR
dc.identifier.wos000387671100010tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.bapUAP(T)-2015/3tr_TR
dc.relation.journalMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBiochemistry & molecular biologyen_US
dc.subjectEarly-onset breast canceren_US
dc.subjectModerate-penetrance genesen_US
dc.subjectPALB2 geneen_US
dc.subjectTurkish populationen_US
dc.subjectAnd/or ovarian-canceren_US
dc.subjectGermline mutationsen_US
dc.subjectFanconi-anemiaen_US
dc.subjectSusceptibility allelesen_US
dc.subjectTruncating mutationsen_US
dc.subjectBRCA2 mutationsen_US
dc.subjectFamiliesen_US
dc.subjectWomenen_US
dc.subjectIdentificationen_US
dc.subjectRelativesen_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.emtreeNuclear proteinen_US
dc.subject.emtreePALB2 protein, humanen_US
dc.subject.emtreeTumor suppressor proteinen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAmino acid substitutionen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBreast canceren_US
dc.subject.emtreeCancer risken_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeDNA sequenceen_US
dc.subject.emtreeExonen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeGene producten_US
dc.subject.emtreeGenetic associationen_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeHeteroduplex analysisen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeIntronen_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMissense mutationen_US
dc.subject.emtreeMutation rateen_US
dc.subject.emtreeMutational analysisen_US
dc.subject.emtreeOncogeneen_US
dc.subject.emtreeOnset ageen_US
dc.subject.emtreePALB2 geneen_US
dc.subject.emtreePenetranceen_US
dc.subject.emtreeTumor suppressor geneen_US
dc.subject.emtreeTurk (people)en_US
dc.subject.emtreeBreast tumoren_US
dc.subject.emtreeCaucasianen_US
dc.subject.emtreeDna mutational analysisen_US
dc.subject.emtreeGenetic association studyen_US
dc.subject.emtreeGenetic predispositionen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeGermline mutationen_US
dc.subject.emtreeMiddle ageden_US
dc.subject.emtreeProceduresen_US
dc.subject.emtreeSingle nucleotide polymorphismen_US
dc.subject.emtreeTurkeyen_US
dc.subject.emtreeYoung adulten_US
dc.subject.meshAdulten_US
dc.subject.meshAge of onseten_US
dc.subject.meshBRCA1 proteinen_US
dc.subject.meshBRCA2 proteinen_US
dc.subject.meshBreast neoplasmsen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshEuropean continental ancestry groupen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic association studiesen_US
dc.subject.meshGenetic predisposition to diseaseen_US
dc.subject.meshGerm-line mutationen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle ageden_US
dc.subject.meshNuclear proteinsen_US
dc.subject.meshPolymorphism, single nucleotideen_US
dc.subject.meshSequence analysis, DNAen_US
dc.subject.meshTumor suppressor proteinsen_US
dc.subject.meshTurkeyen_US
dc.subject.meshYoung adulten_US
dc.subject.scopusFamilial Breast Cancer; Partner and Localizer of BRCA2; Breast Neoplasmsen_US
dc.subject.wosBiochemistry & molecular biologyen_US
dc.titleAssociation of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkeyen_US
dc.typeArticle
dc.wos.quartileQ4en_US

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