Germline mutations found in cancer-predisposing genes of 8.5 percent of 1,120 children, teens
WEDNESDAY, Nov. 18, 2015 (HealthDay News) — Germline mutations are found in cancer-predisposing genes in 8.5 percent of children and adolescents with cancer, according to a study published online Nov. 18 in the New England Journal of Medicine.
Jinghui Zhang, Ph.D., from the St. Jude Children’s Research Hospital in Memphis, Tenn., and colleagues sequenced whole genomes, whole exomes, or both in 1,120 patients aged younger than 20 years (595, 456, and 69 patients, respectively). DNA sequences were analyzed for 565 genes for the presence of germline mutations; a panel of medical experts determined the pathogenicity of mutations. The same approach was used to analyze data from 966 persons who did not have known cancer from the 1000 Genomes Project and from 515 persons with autism and 208 without autism from an autism study.
The researchers found that 8.5 percent of patients with cancer had mutations that were deemed to be pathogenic or probably pathogenic, compared with 1.1 and 0.6 percent of persons in the 1,000 Genomes Project and autism study, respectively. Affected patients most commonly had mutations in TP53 (50 patients), and in APC, BRCA2, NF1, PMS2, RB1, and RUNX1. Protein-truncating mutations in tumor suppressor genes were identified in 18 additional patients. Forty percent of the 58 patients with a predisposing mutation and available information on family history had a family history of cancer.
“Family history did not predict the presence of an underlying predisposition syndrome in most patients,” the authors write.
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