Original paper
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
Abstract
Cancer predisposition syndromes (CPS) result from germline pathogenic variants, and they are increasingly recognized in the etiology of many pediatric cancers. Herein, we report the genetic/genomic analysis of 40 pediatric patients enrolled from 2016 to 2018. Our diagnostic workflow was successful in 50% of screened cases. Overall, the proportion of CPS in our case series is 10.9% (20/184) of enrolled patients. Interestingly, 12.5% of patients...
Paper Details
Title
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
Published Date
Jul 15, 2019
Journal
Volume
96
Issue
4
Pages
359 - 365
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