The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases

Ines Zanna, Piera Rizzolo, Francesco Sera, Mario Falchetti, Paolo Aretini, Giuseppe Giannini, Giovanna Masala, Alberto Gulino, Domenico Palli, Laura Ottini

Research output: Contribution to journalArticle

Abstract

No study has evaluated the performance of BRCA1/2 mutations prediction models in male breast cancer (MBC) series. Although rare, MBC deserves attention because male and female breast cancers share many characteristics, including the involvement of genetic predisposition factors such as BRCA1/BRCA2 mutations. Indeed, the occurrence of MBC is a commonly used criterion to select families for BRCA mutation testing. We evaluated the performance and clinical effectiveness of four different predictive models in a population-based series of 102 Italian MBC patients characterized for BRCA1/2 mutations. Sensitivity, specificity, and positive and negative predictive values (PPV, NPV) were calculated for each risk model at the 10% threshold. The area under the ROC (AUC) curves and its corresponding asymptotic 95% CIs were calculated as a measure of the accuracy. In our study, the BRCAPRO version 5.0 had the highest combination of sensitivity, specificity, NPV and PPV for the combined probability and for the discrimination of BRCA2 mutations. In individuals with negative breast-ovarian cancer family history, BRCAPRO 5.0 reached a high discriminatory capacity (AUC=0.92) in predicting BRCA2 mutations and showed values of sensitivity, specificity, NPV and PPV of 0.5, 0.98, 0.97 and 0.67, respectively, for the combined probability. BRCAPRO version 5.0 can be particularly useful in dealing with non-familial MBC, a circumstance that often represents a challenging situation in genetic counseling.

Original languageEnglish
Pages (from-to)856-858
Number of pages3
JournalEuropean Journal of Human Genetics
Volume18
Issue number7
DOIs
Publication statusPublished - Jul 2010

Keywords

  • BRCAPRO 5.0 prediction model
  • Male breast cancer
  • Risk assessment

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Zanna, I., Rizzolo, P., Sera, F., Falchetti, M., Aretini, P., Giannini, G., Masala, G., Gulino, A., Palli, D., & Ottini, L. (2010). The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases. European Journal of Human Genetics, 18(7), 856-858. https://doi.org/10.1038/ejhg.2010.29