ArticleJCO precision oncology2019
Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
Article in JCO precision oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed.
- Gastric Epithelium from BRCA1 and BRCA2 Carriers Harbors Increased Double-Stranded DNA Damage and Enhanced Growth Potential.Molecular cancer research : MCR · 2026Article
- Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.Nature communications · 2026Article
- Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.Journal of human genetics · 2026Article
- Gastric epithelium frombioRxiv : the preprint server for biology · 2025Article
- Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?JCO precision oncology · 2025Observational
- 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
- Clinical integration of germline findings from a tumor testing precision medicine program.BMC cancer · 2025Article
- Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions.Hereditary cancer in clinical practice · 2024Article
- Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports.JCO precision oncology · 2024Article
- Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board.JCO precision oncology · 2024Article
- Limited Independent Follow-Up with Germline Testing of Variants Detected inJournal of immunotherapy and precision oncology · 2024Article
- Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.NPJ precision oncology · 2023Article
- Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.Journal of human genetics · 2023Article
- Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.Scientific reports · 2023Article
- Article
- Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.European urology · 2023Article
- Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now.JCO oncology practice · 2022Article
- Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers.Annals of surgical oncology · 2022Article
- Ordering and Interpreting Precision Oncology Studies for Adults With Advanced Solid Tumors: A Primer.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
purposeTumor-only genomic profiling (TGP) is increasingly advocated for all patients with cancer given the possible therapeutic implications. It is critical to develop clinical algorithms to identify and address potentially actionable germline findings identified by TGP.
methodsA multidisciplinary team analyzed publicly available data for genes in which mutations are implicated in germline cancer susceptibility and established a pipeline to automate clinical referral for evaluation of TGP findings.
resultsA total of 2,308 patients underwent TGP, with 81 patients (3.5%) identified by the automatic referral pipeline; 37 patients (1.6%) were referred outside the pipeline based on concerns by the molecular geneticist, pathologist, or oncologist regarding genotype-phenotype correlation. Thirty-one patients (38%) and 17 patients (46%) underwent germline testing from the automatic pipeline and other referrals, respectively, and of these patients, 23 (72%) and four (24%) had confirmed germline pathogenic variants (GPVs), respectively. The majority of confirmed GPVs were in automatic referral genes, with
conclusionOf patients undergoing TGP, 5% had somatic findings triggering referral, and implementation of an automatic referral pipeline based solely on gene versus other clinical or molecular features resulted in a 74% germline confirmation. However, only 41% of referred patients underwent germline testing. Systems-based approaches are needed to identify carriers of actionable germline cancer susceptibility mutations identified by TGP.
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.