ArticleNPJ genomic medicine2023
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.
Article in NPJ genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The trial behind it
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Who cites it
10 citing papers in PubMed.
- Targeted Therapy in Pancreatic Ductal Adenocarcinoma: Current Advances and Challenges.Current oncology (Toronto, Ont.) · 2026Review
- Identification of Actionable Mutations in Metastatic Castration-Resistant Prostate Cancer Through Circulating Tumor DNA: Are We There Yet?Current oncology (Toronto, Ont.) · 2025Review
- Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.Journal of medical genetics · 2025Article
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- 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
- Inference of genetic ancestry from a multi-gene cancer panel in Colombian women with cancer.Breast cancer research and treatment · 2025Article
- A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.Cancer medicine · 2025Review
- Clinical integration of germline findings from a tumor testing precision medicine program.BMC cancer · 2025Article
- Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports.JCO precision oncology · 2024Article
- Toward Informed Selection and Interpretation of Clinical Genomic Tests in Prostate Cancer.JCO precision oncology · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decisions and determining optimal screening and risk-reduction interventions.
Identifiers
What OpenQuestion holds
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.