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dc.contributor.authorFloros, Theofanis
dc.contributor.authorTsaousis, Georgios N.
dc.contributor.authorPapadopoulou, Eirini
dc.contributor.authorApessos, Angela
dc.contributor.authorAgiannitopoulos, Konstantinos
dc.contributor.authorPepe, Georgia
dc.contributor.authorKampouri, Stavroula
dc.contributor.authorDiamantopoulos, Nikolaos
dc.contributor.authorIosifidou, Rodoniki
dc.contributor.authorKatopodi, Ourania
dc.contributor.authorKoumarianou, Anna
dc.contributor.authorMarkopoulos, Christos
dc.contributor.authorPapazisis, Konstantinos
dc.contributor.authorVenizelos, Vasileios
dc.contributor.authorXanthakis, Ioannis
dc.contributor.authorXepapadakis, Grigorios
dc.contributor.authorBanu, Eugeniu
dc.contributor.authorEniu, Dan Tudor
dc.contributor.authorNegru, Serban
dc.contributor.authorStanculeanu, Dana Lucia
dc.contributor.authorUngureanu, Andrei
dc.contributor.authorOzmen, Vahit
dc.contributor.authorTansan, Sualp
dc.contributor.authorTekinel, Mehmet
dc.contributor.authorYalcin, Suayib
dc.contributor.authorNasioulas, George
dc.date.accessioned2021-03-02T20:23:17Z
dc.date.available2021-03-02T20:23:17Z
dc.identifier.citationTsaousis G. N. , Papadopoulou E., Apessos A., Agiannitopoulos K., Pepe G., Kampouri S., Diamantopoulos N., Floros T., Iosifidou R., Katopodi O., et al., "Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations", BMC CANCER, cilt.19, 2019
dc.identifier.issn1471-2407
dc.identifier.otherav_01c8c60c-e7a8-420d-8e4d-3416ebb79005
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/7153
dc.identifier.urihttps://doi.org/10.1186/s12885-019-5756-4
dc.description.abstractBackgroundHereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory.MethodsIn total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA).ResultsA pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the BRCA1/2 genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR.ConclusionsIn our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition.
dc.language.isoeng
dc.subjectTıp
dc.subjectONKOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectOnkoloji
dc.titleAnalysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations
dc.typeMakale
dc.relation.journalBMC CANCER
dc.contributor.departmentGenekor Med SA , ,
dc.identifier.volume19
dc.contributor.firstauthorID2503384


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