ArticleJCO precision oncology2021
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Article in JCO precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.JCO precision oncology · 2022Trial
- The moderating role of parental cognitive perceptions in the link between children's cancer predisposition genetic testing results and parent psychological adjustment.Journal of pediatric psychology · 2026Article
- Fear of Cancer Recurrence Among Parents of Children with Cancer Who Underwent Germline Genetic Testing.Current oncology (Toronto, Ont.) · 2026Article
- Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations.The Journal of molecular diagnostics : JMD · 2025Article
- Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Clinical integration of germline findings from a tumor testing precision medicine program.BMC cancer · 2025Article
- Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.PloS one · 2025Article
- Do it once, but do it right.Haematologica · 2024Article
- Molecular profiling of 888 pediatric tumors informs future precision trials and data-sharing initiatives in pediatric cancer.Nature communications · 2024Article
- Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Tumor Molecular Profiling in Hispanics: Moving Towards Precision Oncology and Health Equity.Journal of racial and ethnic health disparities · 2023Article
- Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.Nature medicine · 2022Observational
- Molecular Biomarkers in Cancer.Biomolecules · 2022Review
- Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
29 authors at 14 institutions in 1 country.
Funding
Abstract
purposeMolecular tumor profiling is becoming a routine part of clinical cancer care, typically involving tumor-only panel testing without matched germline. We hypothesized that integrated germline sequencing could improve clinical interpretation and enhance the identification of germline variants with significant hereditary risks. MATERIALS AND
methodsTumors from pediatric patients with high-risk, extracranial solid malignancies were sequenced with a targeted panel of cancer-associated genes. Later, germline DNA was analyzed for a subset of these genes. We performed a post hoc analysis to identify how an integrated analysis of tumor and germline data would improve clinical interpretation.
resultsOne hundred sixty participants with both tumor-only and germline sequencing reports were eligible for this analysis. Germline sequencing identified 38 pathogenic or likely pathogenic variants among 35 (22%) patients. Twenty-five (66%) of these were included in the tumor sequencing report. The remaining germline pathogenic or likely pathogenic variants were single-nucleotide variants filtered out of tumor-only analysis because of population frequency or copy-number variation masked by additional copy-number changes in the tumor. In tumor-only sequencing, 308 of 434 (71%) single-nucleotide variants reported were present in the germline, including 31% with suggested clinical utility. Finally, we provide further evidence that the variant allele fraction from tumor-only sequencing is insufficient to differentiate somatic from germline events.
conclusionA paired approach to analyzing tumor and germline sequencing data would be expected to improve the efficiency and accuracy of distinguishing somatic mutations and germline variants, thereby facilitating the process of variant curation and therapeutic interpretation for somatic reports, as well as the identification of variants associated with germline cancer predisposition.
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