ArticleAmerican journal of surgery2020
Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
Article in American journal of surgery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Exploring Factors That Impact Genetic Counseling Referral and Uptake Using Learning Health Approaches.Learning health systems · 2026Article
- Application of genetic testing criteria for hereditary breast cancer in South Africa.Breast cancer research and treatment · 2025Article
- Genetic Testing Among Breast Cancer Patients in the Eastern Region of Saudi Arabia: Single-Center Experience.Journal of epidemiology and global health · 2024Article
- Chinese American and Non-Hispanic White Breast Cancer Patients' Knowledge and Use of BRCA Testing.International journal of environmental research and public health · 2023Article
- Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.NPJ breast cancer · 2021Article
- Double Heterozygous Mutations in theBreast care (Basel, Switzerland) · 2021Article
- Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.Cancer science · 2021Article
- Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico.JCO global oncology · 2021Article
- The Relationship of Mutation Carriage ofEuropean journal of breast health · 2021Article
- Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.Obstetrics and gynecology · 2020Review
- Early-onset breast cancer in a woman with a germline mobile element insertion resulting inHuman genome variation · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundBRCA genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) in breast cancer patients who meet specific criteria. Limited data are available on the likelihood of detecting a mutation when these guidelines are followed.
methodsA retrospective chart review examined patients with breast cancer who underwent BRCA testing based on NCCN guidelines.
resultsTwelve (6.0%) of the 199 patients had a deleterious BRCA mutation. Family history of BRCA mutations (50%, p = 0.019), age ≤45 at diagnosis (9.7%, p = 0.034) and meeting ≥3 NCCN criteria (13.3%, p = 0.03) yielded the highest rates of BRCA mutation. Having a family history of BRCA mutation and age ≤45 were associated with increased rate of BRCA mutation on multivariate analysis (OR 14.3, CI 1.2-166.3; OR 11.6, CI 1.2-108.6).
conclusionSelect NCCN criteria are associated with higher rates of BRCA mutations. Waiting for genetic testing results to guide surgical management may be warranted in this subset of patients.
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