ArticleClinical genetics2014
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Article in Clinical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03243396 (Building and Sustaining Interventions for Children), which is not on this map. Cited by 50 papers, 1 of them a synthesis 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.
Building and Sustaining Interventions for Children (BASIC): Task-sharing Mental Health Care in Low-resource Settings
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- Hereditary Colorectal Cancer: Clinical Implications of Genomic Medicine and Precision Oncology.Journal of the anus, rectum and colon · 2025Review
- Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer.World journal of clinical oncology · 2024Article
- Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.International journal of molecular sciences · 2024Review
- Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.JCO precision oncology · 2024Article
- Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.Annual review of genomics and human genetics · 2023Review
- Knowledge mapping of early-onset colorectal cancer from 2000 to 2022: A bibliometric analysis.Heliyon · 2023Article
- A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings.Journal of personalized medicine · 2022Article
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- Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022Article
- Classification and genetic counselling for a novel splicing mutation of theGastroenterology report · 2021Article
- From APC to the genetics of hereditary and familial colon cancer syndromes.Human molecular genetics · 2021Review
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- Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer.Computational and structural biotechnology journal · 2021Article
- Review
- Genomic profiling in oncology clinical practice.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.BMC gastroenterology · 2020Review
- Development and validation of next generation sequencing based 35-gene hereditary cancer panel.Hereditary cancer in clinical practice · 2020Article
- Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.BioMed research international · 2020Article
- Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.Current treatment options in gastroenterology · 2019Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Next-generation sequencing enables testing for multiple genes simultaneously ('panel-based testing') as opposed to sequential testing for one inherited condition at a time ('syndrome-based testing'). This study presents results from patients who underwent hereditary colorectal cancer (CRC) panel-based testing ('ColoNext(™) '). De-identified data from a clinical testing laboratory were used to calculate (1) frequencies for patient demographic, clinical, and family history variables and (2) rates of pathogenic mutations and variants of uncertain significance (VUS). The proportion of individuals with a pathogenic mutation who met national syndrome-based testing criteria was also determined. Of 586 patients, a pathogenic mutation was identified in 10.4%, while 20.1% had at least one VUS. After removing eight patients with CHEK2 mutations and 11 MUTYH heterozygotes, the percentage of patients with 'actionable' mutations that would clearly alter cancer screening recommendations per national guidelines decreased to 7.2%. Of 42 patients with an 'actionable' result, 30 (71%) clearly met established syndrome-based testing guidelines. This descriptive study is among the first to report on a large clinical series of patients undergoing panel-based testing for inherited CRC. Results are discussed in the context of benefits and concerns that have been raised about panel-based testing implementation.
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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.