Fig 1.
Geographic distribution of probands included in this study in the southern region of Brazil.
The size of the dots corresponds to the number of probands from each location. The purple triangle represents the State’s capital, Porto Alegre, from which 140 probands derive. RS, Rio Grande do Sul; SC, Santa Catarina; PR, Paraná.
Table 1.
Clinical and pathologic features in BRCA1 and BRCA2 carriers of pathogenic variants and non-carriers.
Fig 2.
Diagrams of the BRCA1 and BRCA2 genes, indicating the position of pathogenic variants identified among all 418 individuals tested.
Exons are indicated by blue boxes and numbered according to the Locus Reference Genomic (LRG) description. Different symbols represent the type of variant, and each symbol indicates one germline carrier. Novel variants, described here for the first time are in bold. The ATG sites and termination codons of both genes are indicated by arrows.
Table 2.
Classification of the variants of uncertain significance (VUS) found in our cohort according to different databases and their effects as predicted by in silico models.
Table 3.
Performance of testing criteria with significant odds ratios.
Fig 3.
Performance of three distinct criteria sets.
Considering all criteria (N = 54, dashed blue line); considering only criteria with p ≤ 0.05 in the OR analysis (N = 25, dashed green line); and considering only criteria with p ≤ 0.001 in the same analysis (N = 14, solid purple line).
Table 4.
Prevalence of BRCA pathogenic variants in Brazilian studies performing comprehensive analysis of BRCA1 and BRCA2 among HBOC cohorts.