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.