ArticleJournal of the National Cancer Institute2024
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
Article in Journal of the National Cancer Institute, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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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.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- A Multilevel Intervention to Identify Individuals for Genetic Testing and Treatment: The IGNITE-TX Pilot Randomized Clinical Trial.JAMA network open · 2026Trial
- Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing.Journal of human genetics · 2026Article
- The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer.Lancet regional health. Americas · 2026Article
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.Frontiers in genetics · 2026Article
- Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.American journal of human genetics · 2025Review
- Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.Cancers · 2023Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Current guidelines recommend single variant testing in relatives of patients with known pathogenic or likely pathogenic germline variants in cancer predisposition genes. This approach may preclude the use of risk-reducing strategies in family members who have pathogenic or likely pathogenic germline variants in other cancer predisposition genes. Cascade testing using multigene panels was performed in 3696 relatives of 7433 probands. Unexpected pathogenic or likely pathogenic germline variants were identified in 230 (6.2%) relatives, including 144 who were negative for the familial pathogenic or likely pathogenic variant but positive for a pathogenic or likely pathogenic variant in a different gene than the proband and 74 who tested positive for the familial pathogenic or likely pathogenic variant and had an additional pathogenic or likely pathogenic variant in a different gene than the proband. Of the relatives with unexpected pathogenic or likely pathogenic germline variants, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial pathogenic or likely pathogenic variant would have resulted in missed, actionable findings for a subset of relatives.
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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.