ArticleClinical genetics2013
Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.
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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.
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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.
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Who cites it
54 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- 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
- Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.Clinical genetics · 2021Pooled it
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale.Human mutation · 2026Article
- Ancestry-informative markers and variants of uncertain significance on hereditary cancer panels.Frontiers in oncology · 2026Article
- Reclassification ofEuropean journal of breast health · 2025Article
- Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.Journal of genetic counseling · 2025Article
- Communication About Negative and Uncertain Results: Interactional Dilemmas During a Genetic Telehealth Consult.Health communication · 2023Article
- The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Breast/ovarian cancer genetic counseling: Do anxiety, depression, and health care-related fears influence cancer worry and risk perception?Cancer medicine · 2023Article
- Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.Genes · 2023Article
- Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.BMC medical genomics · 2023Review
- Screening Programs for Breast Cancer: Toward Individualized, Risk-Adapted Strategies of Early Detection.Cancer treatment and research · 2023Article
- Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.Human mutation · 2022Review
- Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.Journal of community genetics · 2022Review
- 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
- Discovery of over 200 new and expanded genetic conditions using GeneMatcher.Human mutation · 2022Article
- Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.Scientific reports · 2022Article
- Racial and Ethnic Disparities in Germline Genetic Testing of Patients With Young-Onset Colorectal Cancer.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Studies suggest that patients carrying a BRCA variant of uncertain significance (VUS) may have lingering confusion concerning results interpretation. Counseling for uninformative BRCA-negative (UN) results is thought to be more straightforward, despite the fact that both results lead to similar methods of empiric cancer risk counseling. This study compared surgical choices and perceptions between 71 patients with VUS results and 714 patients with UN results. All patients underwent genetic counseling because of a personal or family history of breast or ovarian cancer between 1997 and 2010, and completed a 2-year follow-up survey. Risk-reducing mastectomy rates in both groups were 7% (p = 1.00) and risk-reducing oophorectomy rates were 5% and 3%, respectively (p = 0.42). The VUS group reported less cancer distress reduction than the UN group (23.0% vs 35.8%, respectively, p = 0.043). Over 90% of both groups found the counseling process helpful. Overall, the study suggests that VUS results disclosed in genetic counseling did not cause excessive surgery or exaggerated cancer distress, though patients with a VUS found counseling somewhat less informative or reassuring. Future research on communication of VUS results, including pre-and post-test counseling, is essential for full realization of the potential for genomic medicine.
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