Researchers compared the sequenced DNA of tumor and normal tissues from 1,120 pediatric cancer patients to DNA from subjects in the 1000 Genomes Project. They found that pathogenic mutations were identified in 8.5% of the patients with cancer, as opposed to 1.1% of individuals in the 1000 Genomes Project.
The most commonly mutated genes observed in this study were TP53, APC, BRCA2, NF1, PMS2 and RB1. The discovery of mutations in BRCA1 and BRCA2 in some pediatric cancer patients reveals the need for more studies on the association of mutations in these genes with cancer in children and adolescents. Additionally, the prevalence of germline mutations in patients with Ewing sarcoma suggests that this disease may be part of a cancer predisposition syndrome; contrary to what scientists previously believed.
More details of this study can be found in the New England Journal of Medicine article or on Science Daily.
