Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

ABSTRACT: 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 cou

SUBMITTER: Gargallo P 

PROVIDER: S-EPMC8582391 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature