ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2020
Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07052266 (Feasibility of Obstetric and Cancer Universal Screening), which is not on this map. Cited by 61 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.
Feasibility of Obstetric and Cancer Universal Screening
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- 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
- Leveraging Health Information Technology to Collect Family Cancer History: A Systematic Review and Meta-Analysis.JCO clinical cancer informatics · 2021Pooled it
- Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.JAMA network open · 2024Trial
- Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study.JCO oncology practice · 2023Trial
- Web-based tool for cancer family history collection: A prospective randomized controlled trial.Gynecologic oncology · 2023Trial
- A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.Journal of medical genetics · 2022Trial
- Facilitated cascade testing (FaCT): a randomized controlled trial.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2021Trial
- Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer.Journal of community genetics · 2026Article
- Adapting mainstreaming genetic education and clinical communication materials for cancer patients of varying backgrounds.Patient education and counseling · 2026Article
- Cascade testing as the missing link in cancer prevention among Lynch syndrome families.Familial cancer · 2026Article
- Economic Evaluation of GARDE: A Digital Health Platform for Population-Level Hereditary Cancer Risk Assessment.JCO oncology practice · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- 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
- Trends in the Utilization ofCurrent oncology (Toronto, Ont.) · 2025Article
- Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study.Oncology and therapy · 2025Article
- Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman:Sultan Qaboos University medical journal · 2025Article
- Investigating genetic counselors' communication with Lynch syndrome patients about cascade testing: Barriers, facilitators, and strategies.Journal of genetic counseling · 2025Article
- Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.Cancer medicine · 2025Article
- The Genetic Information and Family Testing (GIFT) study: trial design and protocol.BMC cancer · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
purposeDespite advances in DNA sequencing technology and expanded medical guidelines, the vast majority of individuals carrying pathogenic variants of common cancer susceptibility genes have yet to be identified. An alternative to population-wide genetic screening of healthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide therapy and prevention, combined with augmented familial diffusion or "cascade" of genomic risk information.
methodsUsing a multiple linear regression model, we derived the time interval to detect an estimated 3.9 million individuals in the United States with a pathogenic variant in 1 of 18 cancer susceptibility genes. We analyzed the impact of the proportion of incident patients sequenced, varying observed frequencies of pathogenic germline variants in patients with cancer, differential rates of diffusion of genetic information in families, and family size.
resultsThe time to detect inherited cancer predisposing variants in the population is affected by the extent of cascade to first-, second-, and third-degree relatives (FDR, SDR, TDR, respectively), family size, prevalence of mutations in patients with cancer, and the proportion of patients with cancer sequenced. In a representative scenario, assuming a 7% prevalence of pathogenic variants across cancer types, an average family size of 3 per generation, and 15% of incident patients with cancer in the United States undergoing germline testing, the time to detect all 3.9 million individuals with pathogenic variants in 18 cancer susceptibility genes would be 46.2, 22.3, 13.6, and 9.9 years if 10%, 25%, 50%, and 70%, respectively, of all FDR, SDR, and TDR were tested for familial mutations.
conclusionPeridiagnostic and cascade cancer genetic testing offers an alternative strategy to achieve population-wide identification of cancer susceptibility mutations.
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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.