TY - JOUR
T1 - Improving the accuracy of BRCA1/2 mutation prediction
T2 - Validation of the novel country-customized IC software
AU - Capalbo, Carlo
AU - Ricevuto, Enrico
AU - Vestri, Annarita
AU - Sidoni, Tina
AU - Buffone, Amelia
AU - Cortesi, Enrico
AU - Marchetti, Paolo
AU - Scambia, Giovanni
AU - Tomao, Silverio
AU - Rinaldi, Christian
AU - Zani, Massimo
AU - Ferraro, Sergio
AU - Frati, Luigi
AU - Screpanti, Isabella
AU - Gulino, Alberto
AU - Giannini, Giuseppe
PY - 2006/1
Y1 - 2006/1
N2 - Inherited mutations of the BRCA1/2 genes confer a significantly increased risk for breast and/or ovarian cancer development. Several models were elaborated to help genetic counsellors in selecting individuals with high probability of being mutation carriers. The IC software, a country-customized version of the Brcapro model, was recently shown to be particularly accurate in the prediction of carrier probability status in the Italian population. Here, we used our independent series of 70 breast/ovarian cancer families to analyze the performances of the IC software and compare it to widely used models, such as Brcapro and the Myriad mutation prevalence tables. Analysis of the areas under the receiver operator characteristics (ROC) curves indicated that overall the models performed well. However, the IC software and Myriad tables were more efficient in predicting mutated cases, showing a higher sensitivity (94 and 88%, respectively) and negative predictive value (NPV, 94 and 92%, respectively) compared to Brcapro (sensitivity 71 and NPV 83%). IC software also appeared particularly accurate in the identification of families belonging the low mutation risk group (
AB - Inherited mutations of the BRCA1/2 genes confer a significantly increased risk for breast and/or ovarian cancer development. Several models were elaborated to help genetic counsellors in selecting individuals with high probability of being mutation carriers. The IC software, a country-customized version of the Brcapro model, was recently shown to be particularly accurate in the prediction of carrier probability status in the Italian population. Here, we used our independent series of 70 breast/ovarian cancer families to analyze the performances of the IC software and compare it to widely used models, such as Brcapro and the Myriad mutation prevalence tables. Analysis of the areas under the receiver operator characteristics (ROC) curves indicated that overall the models performed well. However, the IC software and Myriad tables were more efficient in predicting mutated cases, showing a higher sensitivity (94 and 88%, respectively) and negative predictive value (NPV, 94 and 92%, respectively) compared to Brcapro (sensitivity 71 and NPV 83%). IC software also appeared particularly accurate in the identification of families belonging the low mutation risk group (
KW - BRCA1
KW - BRCA2
KW - Brcapro
KW - Breast/ovarian cancer
KW - IC software
KW - Predictive models
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U2 - 10.1038/sj.ejhg.5201511
DO - 10.1038/sj.ejhg.5201511
M3 - Article
C2 - 16288312
AN - SCOPUS:29644434942
VL - 14
SP - 49
EP - 54
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 1
ER -