SynthesisClinical genetics2021
Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
Synthesis in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- How variants of uncertain significance affect clinical decisions: A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Pooled it
- Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.NPJ genomic medicine · 2026Article
- Healthcare experiences and the cycle of genomic healthcare disparities: A cross-sectional study utilizing the 'All of Us' research program.Journal of community genetics · 2026Article
- Advancing Germline Genetic Testing for Breast Cancer in Resource-Restricted Settings: Evidence, Barriers, and a Practical Roadmap for Implementation.Breast cancer (Dove Medical Press) · 2026Review
- Utilization of Genetic Testing and Surgical Implications in an Ethnically Diverse Hawaiian Population.Hawai'i journal of health & social welfare · 2025Article
- Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women.International journal of molecular sciences · 2025Article
- Article
- Investigation of a germline variant of uncertain significance (MRE11:c.1138C > T) identified by exome sequencing in a cancer-affected individual and co-segregation analysis in affected and unaffected family members.Molecular biology reports · 2025Article
- Psychological distress following multi-gene panel testing for hereditary breast and ovarian cancer risk.Journal of genetic counseling · 2025Article
- Reclassification of VUS inGenetics in medicine open · 2025Article
- Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.NPJ precision oncology · 2024Article
- Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022.JCO precision oncology · 2024Article
- Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants.medRxiv : the preprint server for health sciences · 2024Article
- Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.JAMA network open · 2024Article
- Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.Cancer medicine · 2024Article
- Longitudinal adherence to breast cancer surveillance following cancer genetic testing in an integrated health care system.Breast cancer research and treatment · 2023Article
- Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study.Cancer medicine · 2023Article
- Practices and Views of US Oncologists and Genetic Counselors Regarding Patient Recontact After Variant Reclassification: Results of a Nationwide Survey.JCO precision oncology · 2023Article
- The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient.Current oncology (Toronto, Ont.) · 2023Review
- Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Improper medical use of variant of uncertain significance (VUS) remains a concern in hereditary cancer genetic testing. The goal of this study was to assess the association between pathogenic and likely pathogenic (P/LP), VUS, and benign and likely benign (B/LB) genetic test results and cancer-related surgical and screening management. Systematic searches of Medline, Embase, EBSCO CINAHL Plus, and PsycINFO were conducted from 1946 to August 26, 2020. Eligible studies included individuals with cancer genetic test result and surgical or screening management outcomes. We reviewed 885 abstracts and 22 studies that reported relevant surgical and screening outcomes were included. Meta-analysis revealed significantly higher surgical rates among individuals with P/LP than among those with VUS for therapeutic mastectomy with contralateral prophylactic mastectomy (OR = 7.35, 95% CI, 4.14-13.64), prophylactic mastectomy (OR = 3.05, 95% CI, 1.5-6.19), and oophorectomy (OR = 6.46, 95% CI, 3.64-11.44). There were no significant differences in therapeutic mastectomy, or breast conservation or lumpectomy rates between individuals with P/LP and VUS, or in any outcomes between patients with VUS and B/LB. Studies evaluating screening outcomes were limited, and results were conflicting. Comprehensive analysis do not indicate that a significant number of individuals with VUS results undergo inappropriate clinical management.
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What OpenQuestion holds
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.