3/13/2023 0 Comments Brcapro software downloadA 7-fold association between germ-line mutations and family history of breast-ovarian cancer emerged. The a priori probability of carrying a mutation, estimated using BRCAPRO software, showed a good agreement between expected and observed mutations (14% versus 16%). ![]() Screening by protein truncation test and single-strand conformational polymorphism assay, followed by sequencing, revealed 4 pathogenetic mutations (4 of 25 = 16% 95% confidence interval, 5–37%), 1 in BRCA1 and 3 in BRCA2, including mutations recurring in Central Italy ( BRCA1 3345delAG and BRCA2 6696delTC). We combined mutational screening with the study of germ-line allele transcript levels and of tumor-associated losses of heterozygosity. ![]() To investigate at the population level the impact of BRCA1/ BRCA2 gene alterations in male breast cancer, we analyzed a population-based series of 25 male breast cancer cases from Florence, Central Italy.
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