ReviewJournal of experimental & clinical cancer research : CR2020
Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.
Review in Journal of experimental & clinical cancer research : CR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 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
103 citing papers in PubMed, 1 synthesis or guideline pooled it, 192 citations in OpenAlex.
- Pooled it
- The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.Cancer letters · 2026Article
- Functional effect predictions for ion channel missense variants using a protein language model.Journal of human genetics · 2026Article
- Compound delivery of eVLPs enhances prime editing for targeted genome engineering and high-throughput screening.Cell genomics · 2026Article
- A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.BMC research notes · 2026Article
- Gene-specific pathogenicity predictor for chromatin remodeling BAF complex-associated neurodevelopmental disorders.HGG advances · 2026Article
- Cancer genomic profiling predicts pathogenicity ofmedRxiv : the preprint server for health sciences · 2026Article
- Interpretable machine-learning prediction of PSEN1 missense variant pathogenicity based on multi-omics enrichment in six core Alzheimer's disease genes.Alzheimer's research & therapy · 2026Article
- ClinMAVE: a curated database for clinical application of data from multiplexed assays of variant effect.Nucleic acids research · 2026Article
- Real-world genomic profiling of solid tumors: validation and clinical insights from a Brazilian cohort.Einstein (Sao Paulo, Brazil) · 2026Article
- A base editing resource for functional annotation of DNA repair variants in breast-derived cell models.Frontiers in cell and developmental biology · 2026Article
- Synth4bench: generating synthetic data for benchmarking tumor-only somatic variant calling algorithms.Frontiers in bioinformatics · 2026Article
- Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.Scientific reports · 2025Article
- Long-term patient-derived ovarian cancer organoids closely recapitulate tumor of origin and clinical response.Journal of experimental & clinical cancer research : CR · 2025Article
- AI-Driven Variant Annotation for Precision Oncology in Breast Cancer.Clinical and translational science · 2025Article
- Gene Specific Pathogenicity Predictor for Chromatin-Remodeling BAF Complex-Associated Neurodevelopmental Disorders.bioRxiv : the preprint server for biology · 2025Article
- Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.Nature communications · 2025Article
- Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.BMC cancer · 2025Article
- Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman:Sultan Qaboos University medical journal · 2025Article
- Epigenomic insights and computational advances in hematologic malignancies.Molecular cytogenetics · 2025Review
43 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The promising expectations about personalized medicine have opened the path to routine large-scale sequencing and increased the importance of genetic counseling for hereditary cancers, among which hereditary breast and ovary cancers (HBOC) have a major impact. High-throughput sequencing, or Next-Generation Sequencing (NGS), has improved cancer patient management, ameliorating diagnosis and treatment decisions. In addition to its undeniable clinical utility, NGS is also unveiling a large number of variants that we are still not able to clearly define and classify, the variants of uncertain significance (VUS), which account for about 40% of total variants. At present, VUS use in the clinical context is challenging. Medical reports may omit this kind of data and, even when included, they limit the clinical utility of genetic information. This has prompted the scientific community to seek easily applicable tests to accurately classify VUS and increase the amount of usable information from NGS data. In this review, we will focus on NGS and classification systems for VUS investigation, with particular attention on HBOC-related genes and in vitro functional tests developed for ameliorating and accelerating variant classification in cancer.
Indexed as
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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.