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RESEARCH PRODUCT
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
Silvestre OltraCarolina FuentesMarián LázaroBarbara TorresYania YáñezTeresa TormoVanessa SeguraVictoria CastelSandra DolzJaime Font De MoraMaría TassoJosé María FernándezJulia BalaguerInés CalabriaMara AndrésPablo GargalloAdela CañeteAntonio Juan Ribellessubject
Cancer ResearchCàncer en els infantsGenetic counselingBioinformaticsgermlineMedical careArticleDNA sequencingGermlineworking toolGenetic predispositionmedicinegenetic syndromeRC254-282genetic counselingbusiness.industryIncidence (epidemiology)Neoplasms. Tumors. Oncology. Including cancer and carcinogensCancerpediatric oncologymedicine.diseasePediatric cancerOncologyhereditary cancerbusinessgenetic predispositionGenèticadescription
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient’s tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogenic variants associated with recessive diseases was detected, which required family genetic counseling as well. The clinical utility of the Jongmans MC tool was evaluated, showing a high sensitivity for detecting the best-known predisposing syndromes. Our study confirms that the Jongmans MC tool is appropriate for a rapid assessment of patients
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-10-01 | Cancers |