ArticleScientific reports2021
Identification of germline cancer predisposition variants during clinical ctDNA testing.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.Annals of laboratory medicine · 2024Guideline
- Combined Analyses of Circulating Tumor DNA and Immunoscore in Patients With Stage III Colon Cancer: A Post Hoc Analysis of the PRODIGE-GERCOR IDEA-France/HORG-IDEA-Greece Trials.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- Quality and Safety Imperatives in the Identification and Management of Hereditary Cancer Syndromes.Seminars in oncology nursing · 2026Review
- Locked nucleic acid probes enable enzyme-free photoelectrochemical detection of double-stranded DNA cancer biomarkers.Mikrochimica acta · 2026Article
- Circulating tumor DNA in patients with cancer: insights from clinical laboratory.Advances in laboratory medicine · 2025Review
- Article
- Clinical Actionability of Molecular Targets in Multi-Ethnic Breast Cancer Patients: A Retrospective Single-Institutional Study.Molecular diagnosis & therapy · 2025Article
- Return of Clinically Actionable Pharmacogenetic Results From Molecular Tumor Board DNA Sequencing Data: Workflow and Estimated Costs.Clinical pharmacology and therapeutics · 2025Article
- Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention, and clinical impact.Precision clinical medicine · 2025Article
- Pathogenic germ line variants in a prospective multicenter cohort of patients with multiple myeloma.Blood neoplasia · 2025Article
- Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.European urology open science · 2025Article
- Clonal Hematopoiesis of Indeterminate Potential and its Association with Treatment Outcomes and Adverse Events in Patients with Solid Tumors.Cancer research communications · 2025Article
- Liquid biopsy for evaluating mutations and chromosomal aberrations in cerebrospinal fluid from patients with primary or metastatic CNS tumors.The journal of liquid biopsy · 2024Article
- Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC.Scientific reports · 2024Article
- Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.British journal of cancer · 2024Review
- Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.NPJ precision oncology · 2024Article
- The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.NPJ genomic medicine · 2023Article
- Article
- Expert panel consensus recommendations on the use of circulating tumor DNA assays for patients with advanced solid tumors.Cancer science · 2022Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing of circulating tumor DNA (ctDNA) is a non-invasive method to guide therapy selection for cancer patients. ctDNA variant allele frequency (VAF) is commonly reported and may aid in discerning whether a variant is germline or somatic. We report on the fidelity of VAF in ctDNA as a predictor for germline variant carriage. Two patient cohorts were studied. Cohort 1 included patients with known germline variants. Cohort 2 included patients with any variant detected by the ctDNA assay with VAF of 40-60%. In cohort 1, 36 of 91 (40%) known germline variants were identified through ctDNA analysis with a VAF of 39-87.6%. In cohort 2, 111 of 160 (69%) variants identified by ctDNA analysis with a VAF between 40 and 60% were found to be germline. Therefore, variants with a VAF between 40 and 60% should induce suspicion for germline status but should not be used as a replacement for germline testing.
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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.