Germline Mutations in Predisposition Genes in Pediatric Cancer.

ABSTRACT:

Background

The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families.

Methods

In 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole exomes (in 456), or both (in 69). We analyzed the DNA sequences of 565 genes, including 60 that have been associated with autosomal dominant cancer-predisposition syndromes, for the presence of germline mutations. The pathogenicity of the mutations was determined by a panel of medical experts with the use of cancer-specific and locus-specific genetic databases, the medical literature, comp

SUBMITTER: Zhang J 

PROVIDER: S-EPMC4734119 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature