ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2021
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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Who cites it
86 citing papers in PubMed, 147 citations in OpenAlex.
- Trial
- 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
- The Landscape of Genomic and Socioeconomic Variables in Patients with Colorectal Cancer Based on Genetic Ancestry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- CYBRD1 is transcriptionally regulated by RUNX1 and mediates JAK2/STAT3 signaling activation during ovarian cancer progression.Oncogenesis · 2026Article
- Metrics Used for the Evaluation of Chatbots Providing Cancer Genetic Risk Assessment and Education: Systematic Review.JMIR AI · 2026Review
- Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Implementing Timely Germline Genetic Testing for Patients With Pancreatic Cancer Using a Genetics Copilot for Point-of-Care Education and Health Assessment.JCO precision oncology · 2026Article
- Germline testing, access to genetic counseling, and treatment implications in advanced breast cancer.Annals of medicine and surgery (2012) · 2026Article
- Universal Germline Genetic Testing in a Precision Oncology and Rare Cancer Clinic: Implementation and Outcomes.JCO oncology advances · 2026Article
- Early prediction of response to ADT plus ARPIs in mHSPC using interpretable machine learning on PSMA PET/CT: a real-world study.European journal of nuclear medicine and molecular imaging · 2026Article
- Expanding access to cancer genetic care for cancer survivors: Rationale and design for a randomized controlled trial of a chatbot-based genetic education and testing.Contemporary clinical trials · 2026Article
- Consumer acceptability of a cancer registry-driven familial cancer testing pathway: a qualitative study using the Theoretical Framework of Acceptability.Future oncology (London, England) · 2026Article
- Development and Real-World Evaluation of a Statewide Mainstream Model of Germline Genetic Testing for BRCA1/2 and Mismatch Repair Gene Variants (Lynch Syndrome).Asia-Pacific journal of clinical oncology · 2026Article
- Landscape of germline genetic alterations among non-western young male patients with cancer. Findings from The Jordanian exploratory cancer genetics study.Frontiers in oncology · 2026Article
- Comprehensive Bioinformatics Analysis and Experimental Verification RNF186 Is a Recurrence Signature Gene of Hepatocellular Carcinoma that Promotes Cell Proliferation.Oncology research · 2026Article
- Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.Journal of translational medicine · 2025Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Targeted therapy in patients with genetic tumor syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.Biomedicines · 2025Review
- Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.Nature communications · 2025Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
37 authors at 1 institution in 1 country.
Funding
Abstract
purposeTumor mutational profiling is increasingly performed in patients with advanced cancer. We determined the extent to which germline mutation profiling guides therapy selection in patients with advanced cancer.
methodsPatients with cancer undergoing tumor genomic profiling were prospectively consented for germline cancer predisposition gene analysis (2015-2019). In patients harboring germline likely pathogenic or pathogenic (LP/P) alterations, therapeutic actionability was classified using a precision oncology knowledge base. Patients with metastatic or recurrent cancer receiving germline genotype-directed therapy were determined.
resultsAmong 11,947 patients across > 50 malignancies, 17% (n = 2,037) harbored a germline LP/P variant. By oncology knowledge base classification, 9% (n = 1042) had an LP/P variant in a gene with therapeutic implications (4% level 1; 4% level 3B; < 1% level 4).
conclusionIn a pan-cancer analysis, 8% of patients with advanced cancer harbored a germline variant with therapeutic actionability with 40% of these patients receiving germline genotype-directed treatment. Germline sequence analysis is additive to tumor sequence analysis for therapy selection and should be considered for all patients with advanced cancer.
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