ArticleBMC cancer2015
Understanding of BRCA VUS genetic results by breast cancer specialists.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 4 of them syntheses 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
61 citing papers in PubMed, 4 syntheses or guidelines pooled it, 122 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
- Pooled it
- A systematic review of communication interventions to help healthcare professionals discuss genetic testing for breast cancer.Breast cancer research and treatment · 2020Pooled it
- Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer.World journal of clinical oncology · 2024Article
- Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.BMC medical education · 2023Article
- Genetic Counseling in Kidney Disease: A Perspective.Kidney medicine · 2023Article
- Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer.BMC research notes · 2023Article
- Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.Annals of surgical oncology · 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
- Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review.Journal of clinical medicine · 2023Review
- Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2023Article
- Mainstreaming of genomics in oncology: a nationwide survey of the genomics training needs of UK oncologists.Clinical medicine (London, England) · 2023Article
- A novelFrontiers in oncology · 2023Article
- DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.Cancers · 2022Review
- Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants.European journal of human genetics : EJHG · 2022Article
- Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy.Breast cancer research and treatment · 2022Article
- GeNotes: a new online 'just in time' genomics resource for healthcare professionals.Future healthcare journal · 2022Article
- Postgraduate training in Cancer Genetics-a cross-specialty survey exploring experience of clinicians in Ireland.Irish journal of medical science · 2022Article
- How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?BMC medical genomics · 2022Article
1 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
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMainstreaming genetic medicine, increased media coverage and clinical trials for BRCA mutation carriers are leading oncologists into more patient discussions about BRCA genetic testing. BRCA variants of uncertain significance (VUS) occur in 10-20% of tests. VUS detection introduces additional uncertainty for patient and potentially clinician. We aimed to explore the ability of breast cancer specialists (BCS) in the UK to correctly respond to a VUS report.
methodsA survey sent to 800 UK BCS collected demographics data, VUS general knowledge and interpretation and communication based on two genetics reports. A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems.
resultsOf the 155 BCS (22.5%) who completed the survey, 12% reported no genetics training. Ninety five percent referred patients for BRCA genetic tests, 71% felt unsure about the clinical implications of the test reports presented here. A VUS report from a patient with a positive family history was interpreted and theoretically communicated correctly by 94% but when presented with a different VUS report with no management guidance and negative family history, 39% did not know how to communicate this result to the patient. Geneticists reported multiple VUS classification systems; the most commonly used was word-based in 32%.
conclusionsA consistent and standardised format to report particularly VUS results across all diagnostic laboratories plus additional training of UK BCS will be necessary for effective mainstreaming of BRCA testing to the oncology clinic.
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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.