ArticleAnnals of internal medicine2007
Validity of models for predicting BRCA1 and BRCA2 mutations.
Article in Annals of internal medicine, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevention of breast cancer in postmenopausal women: approaches to estimating and reducing risk.Journal of the National Cancer Institute · 2009Pooled it
- Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.BMC health services research · 2021Trial
- Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009Trial
- A multilevel adaptation approach for the sustainable scale-up of family cancer history screening in rural public health clinics.Archives of public health = Archives belges de sante publique · 2026Article
- BRCA Testing in Asian Patients with Ovarian Cancer: Standard Clinical Practice or Mutation Prediction Model?Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Comparison of PREMM5 and PREMMplus Risk Assessment Models to Identify Lynch Syndrome.JCO precision oncology · 2025Article
- The Use of National Cancer Registry Data for Breast Cancer Family History Assessment in Premenopausal Women.Journal of clinical medicine · 2024Article
- Recurrent high-impact mutations at cognate structural positions in class A G protein-coupled receptors expressed in tumors.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Assessment of the Risk of Breast Cancer Development Applying NCI Tool among Iraqi Women.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.NPJ breast cancer · 2021Article
- An Overview of PARP Inhibitors for the Treatment of Breast Cancer.Targeted oncology · 2021Review
- Prevalence ofGeburtshilfe und Frauenheilkunde · 2020Article
- Practical implementation of frailty models in Mendelian risk prediction.Genetic epidemiology · 2020Article
- A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.Genome research · 2020Article
- Penetrance of Breast and Ovarian Cancer in Women Who Carry aJNCI cancer spectrum · 2020Article
- Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.Obstetrics and gynecology · 2020Review
- Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.PLoS genetics · 2019Article
- Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey.Journal of community genetics · 2019Article
- A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.Journal of community genetics · 2018Article
- Simpson's paradox in the integrated discrimination improvement.Statistics in medicine · 2017Article
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28 authors.
Funding
Abstract
backgroundDeleterious mutations of the BRCA1 and BRCA2 genes confer susceptibility to breast and ovarian cancer. At least 7 models for estimating the probabilities of having a mutation are used widely in clinical and scientific activities; however, the merits and limitations of these models are not fully understood.
objectiveTo systematically quantify the accuracy of the following publicly available models to predict mutation carrier status: BRCAPRO, family history assessment tool, Finnish, Myriad, National Cancer Institute, University of Pennsylvania, and Yale University.
designCross-sectional validation study, using model predictions and BRCA1 or BRCA2 mutation status of patients different from those used to develop the models.
settingMulticenter study across Cancer Genetics Network participating centers. PATIENTS: 3 population-based samples of participants in research studies and 8 samples from genetic counseling clinics. MEASUREMENTS: Discrimination between individuals testing positive for a mutation in BRCA1 or BRCA2 from those testing negative, as measured by the c-statistic, and sensitivity and specificity of model predictions.
resultsThe 7 models differ in their predictions. The better-performing models have a c-statistic around 80%. BRCAPRO has the largest c-statistic overall and in all but 2 patient subgroups, although the margin over other models is narrow in many strata. Outside of high-risk populations, all models have high false-negative and false-positive rates across a range of probability thresholds used to refer for mutation testing. LIMITATION: Three recently published models were not included.
conclusionsAll models identify women who probably carry a deleterious mutation of BRCA1 or BRCA2 with adequate discrimination to support individualized genetic counseling, although discrimination varies across models and populations.
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