Article
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Scientific reports - 14 Jan 2020
Chirita-Emandi Adela, Andreescu Nicoleta, Zimbru Cristian G, Tutac Paul, Arghirescu Smaranda, Serban Margit, Puiu Maria
Abstract excerpt
The benefit of reporting unsolicited findings in Next Generation Sequencing (NGS) related to cancer genes in children may have implications for family members, nevertheless, could also cause distress. We aimed to retrospectively investigate germline variants in 94 genes implicated in oncogenesis, in patients referred to NGS testing for various rare genetic diseases and reevaluate the utility of reporting...
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