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Germline Mutations in Predisposition Genes in Pediatric Cancer
Open accessAbstract
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, computational predictions, and second hits identified in the tumor genome. The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approach was used to analyze data from an autism study (from 515 persons with autism and 208 persons without autism). RESULTS: Mutations that were deemed to be pathogenic or probably pathogenic were identified in 95 patients with cancer (8.5%), as compared with 1.1% of the persons in the 1000 Genomes Project and 0.6% of the participants in the autism study. The most commonly mutated genes in the affected patients were TP53 (in 50 patients), APC (in 6), BRCA2 (in 6), NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3). A total of 18 additional patients had protein-truncating mutations in tumor-suppressor genes. Of the 58 patients with a predisposing mutation and available information on family history, 23 (40%) had a family history of cancer. CONCLUSIONS: Germline mutations in cancer-predisposing genes were identified in 8.5% of the children and adolescents with cancer. Family history did not predict the presence of an underlying predisposition syndrome in most patients. (Funded by the American Lebanese Syrian Associated Charities and the National Cancer Institute.).
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“The frequency of germline mutations in patients with osteosarcoma ranges from 18% to 28% and these mutations are more common in younger patients 12,18 .”
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Self-citation
Metadata
- Authors
- Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R. B., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., Becksfort, J. B., Wang, S., Weaver, M. S., Ding, L., Mardis, E. R., Wilson, R. K., Gajjar, A., Ellison, D. W., Pappo, A. S., Pui, C.-H., Nichols, K. E., & Downing, J. R.
- Affiliations
- St. Jude Children's Research Hospital (US)
- Washington University in St. Louis (US)
- ORCID
- Zhang, Jinghui
- Walsh, Michael F.
- Wu, Gang
- Edmonson, Michael N.
- Gruber, Tanja A.
- Easton, John
- Ma, Xiaotu
- Zhou, Xin
- Yergeau, Donald A.
- Wilkinson, Mark R.
- Chen, Xiang
- McGee, Rose B.
- Nuccio, Regina
- Quinn, Emily
- Rusch, Michael
- Patel, Aman
- Becksfort, Jared B.
- Weaver, Meaghann S.
- Ding, Li
- Mardis, Elaine R.
- Wilson, Richard K.
- Gajjar, Amar
- Ellison, David W.
- Pappo, Alberto S.
- Pui, Ching-Hon
- Nichols, Kim E.
- Downing, James R.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2015-12-10
- Volume
- 373
- Issue
- 24
- Pages
- 2336-2346
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4734119
- OpenAlex
- W2303408208
- Cited by
- 1,345
- References
- 56
- Citations by year
- 2026: 90 · 2025: 113 · 2024: 151 · 2023: 132 · 2022: 134 · 2021: 161 · 2020: 141 · 2019: 122 · 2018: 113 · 2017: 101 · 2016: 76 · 2015: 5
- FWCI
- 67.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Funders
- St. Jude Children's Research Hospital (CA21765)
- American Lebanese Syrian Associated Charities (CA 21765)
- National Cancer Institute (R01CA180006, CA21765, P30CA021765)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- germline mutations, cancer susceptibility genes, childhood cancer, children and adolescents, TP53, APC, BRCA2, neurofibromatosis type 1, PMS2, RB1, RUNX1, tumor suppressor, pathogenicity assessment, family history of cancer, genetic counseling, autism spectrum disorder
- MeSH terms
- Adolescent, Autistic Disorder, Child, Female, Genes, Dominant, Humans, Male, Neoplasms, Genome, Human, Sequence Analysis, DNA, Germ-Line Mutation, SEER Program, Genetic Predisposition to Disease, Genes, Neoplasm, Young Adult
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