ArticleJournal of gynecologic oncology2019
The influence of BRCA variants of unknown significance on cancer risk management decision-making.
Article in Journal of gynecologic oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 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
- A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.BMC research notes · 2026Article
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results.Journal of genetic counseling · 2025Article
- Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes.BMJ open · 2025Article
- Article
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.NPJ genomic medicine · 2023Article
- 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
- 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
- Assessing the pathogenicity ofFrontiers in oncology · 2022Article
- Article
- Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.Scientific reports · 2021Article
- Prevalence and Spectrum of GermlineFrontiers in oncology · 2021Article
- AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.BMC medical genomics · 2020Article
- Prevalence and oncologic outcomes ofObstetrics & gynecology science · 2019Article
- Clinical significance of variants of unknown significances inJournal of gynecologic oncology · 2019Article
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5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo compare gynecological cancer risk management between women with BRCA variants of unknown significance (VUS) to women with negative genetic testing.
methodsNinety-nine patients whose BRCA genetic testing yielded VUS were matched with 99 control patients with definitive negative BRCA results at a single institution. Demographics and risk management decisions were obtained through chart review. Primary outcome was the rate of risk-reducing bilateral salpingo-oophorectomy (RRBSO). Chi square tests, t-tests, and logistic regression were performed, with significance of p<0.05.
resultsVUS patients were more likely to be non-Caucasian (p=0.000) and of Ashkenazi-Jewish descent (p=0.000). There was no difference in gynecologic oncology referrals or recommendations to screen or undergo risk-reducing surgery for VUS vs. negative patients. Ultimately, 44 patients (22%) underwent RRBSO, with no significant difference in surgical rate based on the presence of VUS. Ashkenazi-Jewish descent was associated with a 4.5 times increased risk of RRBSO (OR=4.489; 95% CI=1.484-13.579) and family history of ovarian cancer was associated with a 2.6 times risk of RRBSO (OR=2.641; 95% CI=1.107-6.299).
conclusionIn our institution, patients with VUS were surgically managed similarly to those with negative BRCA testing. The numbers of patients with VUS are likely to increase with the implementation of multi-gene panel testing. Our findings underscore the importance of genetic counseling and individualized screening and prevention strategies in the management of genetic testing results.
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