ArticleNPJ precision oncology2023
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
Article in NPJ precision oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Tumor, germline, and paired testing in oncology: practical considerations.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2026Article
- Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.Journal of medical genetics · 2025Article
- Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?JCO precision oncology · 2025Observational
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- ClinVar Database Evolution and Impact on Potential Pathogenic Germline Variant Reporting from Tumor Comprehensive Genomic Profiling.Cancer research communications · 2025Article
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling.International journal of clinical oncology · 2025Review
- Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025Article
- CHEK2-related breast cancer: real-world challenges.Familial cancer · 2025Article
- Clinical integration of germline findings from a tumor testing precision medicine program.BMC cancer · 2025Article
- Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy.Journal of human genetics · 2025Article
- Real-world assessment of comprehensive genome profiling impact on clinical outcomes: A single-institution study in Japan.Cancer medicine · 2024Article
- Saturation genome editing of BAP1 functionally classifies somatic and germline variants.Nature genetics · 2024Article
- Putting comprehensive genomic profiling of ctDNA to work: 10 proposed use cases.The journal of liquid biopsy · 2024Review
- Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.Journal of translational medicine · 2024Article
- Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.British journal of cancer · 2024Review
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- Patient survey on cancer genomic medicine in Japan under the national health insurance system.Cancer science · 2024Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Existing guidance regarding clinically informed germline testing for patients with cancer is effective for evaluation of classic hereditary cancer syndromes and established gene/cancer type associations. However, current screening methods may miss patients with rare, reduced penetrance, or otherwise occult hereditary risk. Secondary finding of suspected germline variants that may confer inherited cancer risk via tumor comprehensive genomic profiling (CGP) has the potential to help address these limitations. However, reporting practices for secondary finding of germline variants are inconsistent, necessitating solutions for transparent and coherent communication of these potentially important findings. A workflow for improved confidence detection and clear reporting of potential pathogenic germline variants (PPGV) in select cancer susceptibility genes (CSG) was applied to a research dataset from real-world clinical tumor CGP of > 125,000 patients with advanced cancer. The presence and patterns of PPGVs identified across tumor types was assessed with a focus on scenarios in which traditional clinical germline evaluation may have been insufficient to capture genetic risk. PPGVs were identified in 9.7% of tumor CGP cases using tissue- and liquid-based assays across a broad range of cancer types, including in a number of "off-tumor" contexts. Overall, PPGVs were identified in a similar proportion of cancers with National Comprehensive Cancer Network (NCCN) recommendations for germline testing regardless of family history (11%) as in all other cancer types (9%). These findings suggest that tumor CGP can serve as a tool that is complementary to traditional germline genetic evaluation in helping to ascertain inherited susceptibility in patients with advanced cancer.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.