Germline Mutations in Predisposition Genes in Pediatric Cancer

Germline Mutations in Predisposition Genes in Pediatric Cancer
Jinghui Zhang, (2015), NEJM Link to abstract:

 

The authors performed whole-genome, whole-exome, or both types of sequencing on germline DNA in 1120 pediatric cancer patients younger than 20 years of age in order to identify the prevalence of predisposing mutations. The cohort represented a wide array of the most common childhood cancers of hematologic and solid nature. 8.5% of the patients with cancer had a mutation that was considered to be pathogenic or probably pathogenic. Common mutated genes were TP53, APC, BRCA2, NF1, PMS2, RB1 and RUNX1.


Current methods identify about 8.5% of pediatric patients to harbor a pathogenic or probably pathogenic cancer-predisposing mutation in their germline DNA.