Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Georgios N TsaousisEirini PapadopoulouAngela ApessosKonstantinos AgiannitopoulosGeorgia PepeStavroula KampouriNikolaos DiamantopoulosTheofanis FlorosRodoniki IosifidouOurania KatopodiAnna KoumarianouChristos MarkopoulosKonstantinos PapazisisVasileios VenizelosIoannis XanthakisGrigorios XepapadakisEugeniu BanuDan Tudor EniuSerban NegruDana Lucia StanculeanuAndrei UngureanuVahit OzmenSualp TansanMehmet TekinelSuayib YalcinGeorge NasioulasPublished in: BMC cancer (2019)
In 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.