ArticleJournal of the National Cancer Institute2019
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
Article in Journal of the National Cancer Institute, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 73 papers, 2 of them syntheses that pooled it.
What it found
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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.
Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer
Who cites it
73 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Pooled it
- NGS in Lung, Breast, and Unknown Primary Cancer in Colombia: A Multidisciplinary Consensus on Challenges and Opportunities.JCO global oncology · 2021Guideline
- Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study.JCO oncology practice · 2023Trial
- Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.Cancer prevention research (Philadelphia, Pa.) · 2021Trial
- A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.Journal of cancer education : the official journal of the American Association for Cancer Education · 2021Trial
- Trial
- Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing.Journal of human genetics · 2026Article
- BRCAShare: a video-based message can increase sharing of familial genetic test results.Hereditary cancer in clinical practice · 2026Article
- Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants.JCO precision oncology · 2026Article
- Learning about the genetic risk in my family: Preferences of Italian nurses.Journal of community genetics · 2026Article
- Digital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results.Molecular biology reports · 2026Article
- Family Health History Completeness in Prenatal Genetic Counseling: An Exploratory Study at a Single University Hospital.Healthcare (Basel, Switzerland) · 2025Article
- Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling.American journal of medical genetics. Part A · 2025Article
- Metaphors and Stigma in Confucian Culture: A Qualitative Study of Cancer Risk Communication Dilemmas for Cascade Screening Among Hereditary Cancer Families From China.Psycho-oncology · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- Deficits of Molecular Prognosis/Diagnosis Studies in Underserved Populations.JCO oncology practice · 2024Review
- High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.Breast cancer (Tokyo, Japan) · 2024Article
- Factors Impacting Intent to Share Multigenic Cancer Testing Results in a Community Hospital Setting.Journal of personalized medicine · 2024Article
- Genetic Counseling, Testing, and Family Communication Into Survivorship After Diagnosis of Breast Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% confidence interval [CI] = 45.5 to 49.6%) underwent genetic testing, and 12.0% (95% CI = 9.2 to 14.8%) who tested positive continued the cascade by inviting additional relatives to test. Of tested relatives, 4.9% (95% CI = 3.8 to 6.1%) had a pathogenic variant in a different gene from the known familial one, and 16.8% (95% CI = 14.7 to 18.8%) had a variant of uncertain significance. These results suggest that an online, low-cost program is an effective approach to implementing cascade testing, and that up to 5% of the general population may carry a pathogenic variant in 1 of 30 cancer-associated genes.
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