Roche, Massachusetts General Hospital, Boston
Crawford, University of California San Francisco MedicalĬenter K. Chittenden, Dana-Farber Cancer Institute, Boston, MA G. Cummings, University of Chicago, Chicago, IL J. Tomlinson, The University of Texas Southwestern Medical Center at Dallas Women who inherit a BRCA1 or BRCA2 gene with a deleterious mutation face a 35%–85% lifetime risk of developingīreast cancer (1–6) and a 16%–57% lifetime risk of developingĪffiliations of authors: D. Model consistently demonstrated superior specificity, overallĭiscrimination between BRCA gene mutation carriers andīRCA gene mutation noncarriers was slightly better forīRCAPRO. Mutation carriers is similar for experienced risk counselorsĪnd the computer model BRCAPRO. Conclusions: Sensitivity for identifying BRCA gene Performance measures when BRCAPRO-assigned gene mutation probability information was included with the pedigrees. There was a slight,īut not statistically significant, improvement in all counselor The risk counselors (range = 0.620 to 0.717) and 0.712 (range Median area under the ROC curves was 0.671 for Threshold was 16% (range = 6% to 34%) for the riskĬounselors and 32% (range = 30% to 34%) for BRCAPRO = 81% to 98%) for the eight risk counselors and 92% (range Sensitivity for identifying mutation carriers was 94% (range Results: Using a greater-than10% BRCA gene mutation probability threshold, the median Under receiver operator characteristics (ROC) curves wereĬalculated for each risk counselor and for BRCAPRO. Sensitivity, specificity, negative predictive value, positive predictive value, and areas Sample was limited to pedigrees with a proband affected byīreast or ovarian cancer and BRCA1 and BRCA2 gene sequencing results unequivocally reported as negative or positive for a deleterious mutation. Selected from an initial sample of 272 pedigrees. Methods: Eight cancer risk counselors and the computer model BRCAPRO estimated BRCA gene mutation probabilities for 148 pedigrees Measured the performance of eight cancer risk counselorsĪnd of a computer model, BRCAPRO, at identifying families The accuracy of these estimates is currently unknown. Estimation of BRCA gene mutation probability is an important component of pretest counseling, but Occasionally uninformative, and frequently associated withĮthical and legal issues, careful patient selection is required Fabian, Jennifer Klemp,īackground: Because BRCA gene mutation testing is costly, Paula Rieger, Laura Esserman, Beth Crawford, Kevin S. Smith, Linda Robinson, Amy Stucky, Olufunmilayo
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