ArticleGenome medicine2014
Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
Article in Genome medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 91 citations in OpenAlex.
- Trial
- Communicating BRCA research results to patients enrolled in international clinical trials: lessons learnt from the AGO-OVAR 16 study.BMC medical ethics · 2016Trial
- Developing the MyCancerGene Digital Health Portal to Improve Patients' Understanding of Germline Cancer Genetic Test Results: Development, User, and Usability Testing Study.JMIR formative research · 2025Article
- Development and validation of ultrasound-based radiomics model to predict germline BRCA mutations in patients with breast cancer.Cancer imaging : the official publication of the International Cancer Imaging Society · 2024Article
- Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.Circulation · 2023Observational
- Reflexive standardization and the resolution of uncertainty in the genomics clinic.Social studies of science · 2023Article
- Article
- A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.International journal of molecular sciences · 2022Article
- Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?International journal of oncology · 2022Article
- DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.Genome medicine · 2022Article
- Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.Scientific reports · 2022Article
- BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications.Breast (Edinburgh, Scotland) · 2022Article
- Article
- Prevalence and Spectrum of GermlineFrontiers in oncology · 2021Article
- Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis.BMC medical ethics · 2020Article
- The Community Oncology and Academic Medical Center Alliance in the Age of Precision Medicine: Cancer Genetics and Genomics Considerations.Journal of clinical medicine · 2020Review
- Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study.Journal of the American College of Surgeons · 2020Article
- Differences in cysteine peptidases-like activity in sera of patients with breast cancer.Cancer biomarkers : section A of Disease markers · 2020Article
- Massive computational identification of somatic variants in exonic splicing enhancers using The Cancer Genome Atlas.Cancer medicine · 2019Article
- Towards establishing consistency in triage in a tertiary specialty.European journal of human genetics : EJHG · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
After two decades of genetic testing and research, the BRCA1 and BRCA2 genes are two of the most well-characterized genes in the human genome. As a result, variants of uncertain significance (VUS; also called variants of unknown significance) are reported less frequently than for genes that have been less thoroughly studied. However, VUS continue to be uncovered, even for BRCA1/2. The increasing use of multi-gene panels and whole-genome and whole-exome sequencing will lead to higher rates of VUS detection because more genes are being tested, and most genomic loci have been far less intensively characterized than BRCA1/2. In this article, we draw attention to ethical and policy-related issues that will emerge. Experience garnered from BRCA1/2 testing is a useful introduction to the challenges of detecting VUS in other genetic testing contexts, while features unique to BRCA1/2 suggest key differences between the BRCA experience and the current challenges of multi-gene panels in clinical care. We propose lines of research and policy development, emphasizing the importance of pooling data into a centralized open-access database for the storage of gene variants to improve VUS interpretation. In addition, establishing ethical norms and regulated practices for sharing and curating data, analytical algorithms, interpretive frameworks and patient re-contact are important policy areas.
Identifiers
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.