ArticleOncotarget2019
The effects of genomic germline variant reclassification on clinical cancer care.
Article in Oncotarget, 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.Journal of medical genetics · 2026Article
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.Human genetics · 2025Article
- Ethical and Psychosocial Issues Associated with Genetic Testing for Hereditary Tumor Predisposition Syndromes.Healthcare (Basel, Switzerland) · 2025Review
- Universal Genetic Counseling and Testing for Black Women: A Risk-Stratified Approach to Addressing Breast Cancer Disparities.Clinical breast cancer · 2025Review
- An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results.Journal of genetic counseling · 2025Article
- A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.Cancer medicine · 2025Review
- Reclassification of variants of uncertain significance by race, ethnicity, and ancestry for patients at risk for breast cancer.Frontiers in oncology · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.NPJ precision oncology · 2024Article
- Prevention of Ovarian Cancer: Where are We Now and Where are We Going?Current oncology reports · 2024Review
- Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.Kidney international reports · 2024Article
- Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.Frontiers in genetics · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.Familial cancer · 2023Article
- Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.European journal of human genetics : EJHG · 2023Article
- Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.Open biology · 2023Article
- Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.Molecular genetics & genomic medicine · 2023Article
- The challenge of managing the evolution of genomics data over time: a conceptual model-based approach.BMC bioinformatics · 2022Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
The last two decades have provided an astounding amount of novel information about the human genome. Translating germline genomic data into clinically actionable findings is reliant on the annotation and laboratory classification of specific variants. Variant classification helps providers and patients determine if genomic findings can inform clinical management. In germline hereditary cancer predisposition testing, variants of uncertain significance (VUS) are routinely misunderstood. By definition, they cannot be classified by the testing laboratory as either problematic mutations or benign variants. Many VUS undergo category reclassifications over time (from months to years after initial classification) as more information is known about normal human genomic diversity, especially among underrepresented minority populations. When VUS are reclassified, it has been shown that they are often downgraded. Likewise, some variants originally thought to be actionable mutations are downgraded to VUS or benign variants. Rarely but importantly, VUS may be reclassified in a manner that increases their initial clinical significance. Here, we discuss the insights gained from the study of variant reclassification. We provide a case series to highlight the potential impact that variant reclassifications can have on individual and family cancer management, risk counseling, and screening.
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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.