ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2 , MSH6 , and PMS2.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- Article
- Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.Genetics in medicine open · 2025Article
- Adenomas from individuals with pathogenic biallelic variants in themedRxiv : the preprint server for health sciences · 2024Article
- Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.Annual review of biomedical data science · 2024Review
- Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.Gastroenterology · 2023Article
- Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.The Journal of molecular diagnostics : JMD · 2023Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.The Journal of molecular diagnostics : JMD · 2021Article
- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.Frontiers in genetics · 2021Article
- FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.Molecular genetics & genomic medicine · 2020Article
- Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.Human mutation · 2020Article
- SEOM clinical guideline on hereditary colorectal cancer (2019).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Article
- Precision medicine for gastrointestinal cancer: Recent progress and future perspective.World journal of gastrointestinal oncology · 2020Review
- A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).Cold Spring Harbor molecular case studies · 2019Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
purposeGene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework.
methodsForty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal cancer and/or polyposis. Genetic and experimental evidence supporting each gene-disease relationship was curated independently by two trained biocurators. Evidence was reviewed with experts and assigned a final clinical validity classification.
resultsOf all gene-disease pairs evaluated, 14/42 (33.3%) were Definitive, 1/42 (2.4%) were Strong, 6/42 (14.3%) were Moderate, 18/42 (42.9%) were Limited, and 3/42 (7.1%) were either No Reported Evidence, Disputed, or Refuted. Of panels in the National Institutes of Health Genetic Testing Registry, 4/26 (~15.4%) contain genes with Limited clinical evidence.
conclusionClinicians and laboratory diagnosticians should note that <60% of the genes on clinically available panels have Strong or Definitive evidence of association with hereditary colon cancer or polyposis, and >40% have only Moderate, Limited, Disputed, or Refuted evidence. Continuing to expand the structured assessment of the clinical relevance of genes listed on hereditary cancer testing panels will help clinicians and diagnostic laboratories focus the communication of genetic testing results on clinically significant genes.
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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.