ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
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 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
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- Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers.Communications biology · 2024Article
- Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.Annual review of biomedical data science · 2024Review
- Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.European journal of human genetics : EJHG · 2023Article
- Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.International journal of molecular sciences · 2023Article
- ATM c.7570G>C is a high-risk allele for breast cancer.International journal of cancer · 2023Article
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- Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.Genes · 2022Article
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- Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.JNCI cancer spectrum · 2022Article
- An overview of genetic services delivery for hereditary breast cancer.Breast cancer research and treatment · 2022Review
- High familial burden of cancer correlates with improved outcome from immunotherapy in patients with NSCLC independent of somatic DNA damage response gene status.Journal of hematology & oncology · 2022Article
- Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
purposeSeveral genes on hereditary breast and ovarian cancer susceptibility test panels have not been systematically examined for strength of association with disease. We employed the Clinical Genome Resource (ClinGen) clinical validity framework to assess the strength of evidence between selected genes and breast or ovarian cancer.
methodsThirty-one genes offered on cancer panel testing were selected for evaluation. The strength of gene-disease relationship was systematically evaluated and a clinical validity classification of either Definitive, Strong, Moderate, Limited, Refuted, Disputed, or No Reported Evidence was assigned.
resultsDefinitive clinical validity classifications were made for 10/31 and 10/32 gene-disease pairs for breast and ovarian cancer respectively. Two genes had a Moderate classification whereas, 6/31 and 6/32 genes had Limited classifications for breast and ovarian cancer respectively. Contradictory evidence resulted in Disputed or Refuted assertions for 9/31 genes for breast and 4/32 genes for ovarian cancer. No Reported Evidence of disease association was asserted for 5/31 genes for breast and 11/32 for ovarian cancer.
conclusionEvaluation of gene-disease association using the ClinGen clinical validity framework revealed a wide range of classifications. This information should aid laboratories in tailoring appropriate gene panels and assist health-care providers in interpreting results from panel testing.
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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.