Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Konstantinos AgiannitopoulosGeorgia PepeGeorgios N TsaousisKevisa PotskaDimitra BouzarelouAnastasia KatseliChristina NtogkaAngeliki MeintaniNikolaos TsoulosStylianos GiassasVassileios VenizelosChristos MarkopoulosRodoniki IosifidouSofia KarageorgopoulouChristos ChristodoulouIoannis NatsiopoulosKonstantinos PapazisisMaria Vasilaki-AntonatouEleftherios KabletsasAmanta PsyrriDimitrios ZiogasEfthalia LallaAnna KoumarianouKornilia AnastasakouChristos PapadimitriouVahit OzmenSualp TansanKerim KabanTahsin OzatliDan Tudor EniuAngelica ChioreanAlexandru BlidaruMarrit RinsmaEirini PapadopoulouGeorge NasioulasPublished in: Cancer genomics & proteomics (2023)
In silico CNV detection tools provide a viable and cost-effective method to identify CNVs from NGS experiments. CNVs constitute a substantial percentage of P/LP variants, since they represent up to one of every ten P/LP findings identified by NGS multigene analysis; therefore, their evaluation is highly recommended to improve the diagnostic yield of hereditary cancer analysis.