Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: A retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer

Ivana Antonucci, Martina Provenzano, Luca Sorino, Michela Balsamo, Gitana Maria Aceto, Pasquale Battista, David Euhus, Ettore Cianchetti, Patrizia Ballerini, Clara Natoli, Giandomenico Palka, Liborio Stuppia

Research output: Contribution to journalArticle

Abstract

During the past years, several empirical and statistical models have been developed to discriminate between carriers and non-carriers of germline BRCA1/BRCA2 (breast cancer 1, early onset/breast cancer 2, early onset) mutations in families with hereditary breast or ovarian cancer. Among these, the BRCAPRO or CaGene model is commonly used during genetic counseling, and plays a central role in the identification of potential carriers of BRCA1/2 mutations. We compared performance and clinical applicability of BRCAPRO version 5.1 vs version 6.0 in order to assess diagnostic accuracy of updated version. The study was carried out on 517 pedigrees of patients with familial history of breast or ovarian cancer, 150 of which were submitted to BRCA1/2 mutation screening, according to BRCAPRO evaluation or to criteria based on familial history. In our study, CaGene 5.1 was more sensitive than CaGene 6.0, although the latter showed a higher specificity. Both BRCAPRO versions better discriminate BRCA1 than BRCA2 mutations. This study evidenced similar performances in the two BRCAPRO versions even if the CaGene 6.0 has underestimated the genetic risk prediction in some BRCA mutation-positive families. Genetic counselors should recognize this limitation and during genetic counseling would be advisable to use a set of criteria in order to improve mutation carrier prediction.

Original languageEnglish (US)
Pages (from-to)379-387
Number of pages9
JournalJournal of Human Genetics
Volume62
Issue number3
DOIs
StatePublished - Mar 1 2017

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Antonucci, I., Provenzano, M., Sorino, L., Balsamo, M., Aceto, G. M., Battista, P., Euhus, D., Cianchetti, E., Ballerini, P., Natoli, C., Palka, G., & Stuppia, L. (2017). Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: A retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer. Journal of Human Genetics, 62(3), 379-387. https://doi.org/10.1038/jhg.2016.138