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Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
- Source :
- Familial Cancer. 9:495-502
- Publication Year :
- 2010
- Publisher :
- Springer Science and Business Media LLC, 2010.
-
Abstract
- A number of models have been developed to predict the probability that a person carries a detectable germline mutation in the BRCA1 or BRCA2 genes. Their relative performance in a clinical setting is variable. To compare the performance characteristics of a web-based BRCA1/BRCA2 gene mutation prediction model: the PENNII model ( www.afcri.upenn.edu/itacc/penn2 ), with studies done previously at our institution using four other models including LAMBDA, BRCAPRO, modified PENNI (Couch) tables, and Myriad II tables collated by Myriad Genetics Laboratories. Proband and family cancer history data were analyzed from 285 probands from unique families (27 Ashkenazi Jewish; 277 female) seen for genetic risk assessment in a multispecialty tertiary care group practice. All probands had clinical testing for BR.CA1 and BRCA2 mutations conducted in the same single commercial laboratory. The performance for PENNII results were assessed by the area under the receiver operating characteristic curve (AUC) of sensitivity versus 1-specificity, as a measure of ranking. The AUCs of the PENNII model were higher for predicting BRCA1 than for BRCA2 (81 versus 72%). The overall AUC was 78.7%. PENN II model for BRCA1/2 prediction performed well in this population with higher AUC compared with our experience using four other models. The ease of use of the PENNII model is compatible with busy clinical practices.
- Subjects :
- Adult
Proband
Oncology
Heterozygote
Cancer Research
medicine.medical_specialty
Population
Breast Neoplasms
Sensitivity and Specificity
Article
Germline mutation
Risk Factors
Internal medicine
Epidemiology
Genetics
medicine
Humans
Computer Simulation
Genetic Predisposition to Disease
Ashkenazi Jewish
skin and connective tissue diseases
education
Germ-Line Mutation
Genetics (clinical)
BRCA2 Protein
Ovarian Neoplasms
education.field_of_study
Models, Statistical
Receiver operating characteristic
BRCA1 Protein
business.industry
Middle Aged
Human genetics
Area Under Curve
Jews
Female
business
BRCA2 Gene Mutation
Software
Subjects
Details
- ISSN :
- 15737292 and 13899600
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Familial Cancer
- Accession number :
- edsair.doi.dedup.....7c87720a41273b4333e1fa6788bcd039