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Germline Mutations in Predisposition Genes in Pediatric Cancer.

Jinghui Zhang1, Michael F Walsh1, Gang Wu1

  • 1Departments of Computational Biology (J.Z., G.W., M.N.E., D.H., X.M., X.Z., M.R.W., X.C., M.R., A.P., J.B.B., S.W.), Oncology (M.F.W., T.A.G., R.B.M., S.H.-D., R.N., E.Q., A.G., A.S.P., C.-H.P., K.E.N.), and Pathology (T.A.G., M.R.W., S.A.S., D.W.E., C.-H.P., J.R.D.) and the Pediatric Cancer Genome Project (J.Z., M.F.W., G.W., M.N.E., T.A.G., J.E., X.M., D.A.Y., B.V., X.C., R.B.M., S.H.-D., R.N., E.Q., S.A.S., M.R., A.P., J.B.B., S.W., M.S.W., A.G., D.W.E., A.S.P., C.-H.P., K.E.N., J.R.D.), St. Jude Children's Research Hospital, Memphis, TN; and the Department of Genetics and McDonnell Genome Institute, Washington University School of Medicine in St. Louis, St. Louis (L.D., E.R.M., R.K.W.).

The New England Journal of Medicine
|November 19, 2015
PubMed
Summary
This summary is machine-generated.

Germline mutations predisposing to cancer were found in 8.5% of pediatric patients. Family history alone was not a reliable indicator for these genetic predispositions in children with cancer.

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Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • The prevalence and types of cancer-predisposing mutations in pediatric patients are not well understood.
  • Identifying these mutations can enhance understanding of cancer development, guide treatment, and inform genetic counseling for families.

Purpose of the Study:

  • To determine the frequency and spectrum of germline cancer-predisposing mutations in children and adolescents with cancer.
  • To compare mutation rates in pediatric cancer patients with control populations.

Main Methods:

  • Whole-genome or whole-exome sequencing was performed on 1120 pediatric cancer patients, analyzing 565 genes, including those linked to autosomal dominant cancer-predisposition syndromes.
  • Pathogenicity of identified germline mutations was assessed by expert review using genetic databases, literature, computational predictions, and tumor data.
  • Control data from the 1000 Genomes Project (966 individuals) and an autism study (723 individuals) were analyzed for comparison.

Main Results:

  • Pathogenic or probably pathogenic germline mutations were found in 8.5% of pediatric cancer patients, significantly higher than in the 1000 Genomes Project (1.1%) and autism study (0.6%).
  • The most frequently mutated genes in affected patients included TP53 (50 patients), APC (6 patients), and BRCA2 (6 patients).
  • Among patients with a predisposing mutation and available family history (58 patients), 40% had a family history of cancer.

Conclusions:

  • Germline mutations in cancer-predisposing genes occur in 8.5% of pediatric and adolescent cancer patients.
  • A family history of cancer did not reliably predict the presence of an underlying genetic predisposition syndrome in most cases.
  • These findings highlight the importance of genetic screening in pediatric cancer patients regardless of family history.