Table 3 Prevalence of BRCA1/2 germline variants in HBOC patients in Brazil.
From: Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
References | n | Studied population | BRCA1, n (%) | BRCA2, n (%) | BRCA1/2, n (%) | Screening methodology | BRCA1 covered region | BRCA2 covered region |
|---|---|---|---|---|---|---|---|---|
Gomes et al.22 | 402 | Unselected BC | 6 (1.5) | 3 (0.8) | 9 (2.3) | OMM + DS | Partial | Partial |
Carraro et al.24 | 54 | BC < 35 years | 7 (13) | 4 (7.4) | 11 (20.4) | DS | Complete | Complete |
Encinas et al.23 | 79 | BC < 35 years | 4 (5.1) | 9 (11.4) | 13 (16.5) | DS + MLPA | Complete | Complete |
Lourenço et al.25 | 47 | High-risk BC | 7 (15) | NA | 7 (15) | DS | Complete | NA |
Dufloth et al.26 | 31 | High-risk BC | 1 (3.2) | 3 (9.7) | 4 (12.9) | OMM + DS | Partial | Partial |
Silva et al.27 | 120 | High-risk BC | 20 (16.7) | 7 (5.8) | 27 (22.5) | DS + MLPA | Complete | Complete |
Esteves et al.28 | 612 | High-risk (PH ± FH) | 19 (2.9) | 3 (0.5) | 21 (3.4) | OMM | Partial | Partial |
Ewald et al.29 | 137 | High-risk (PH ± FH) | 7 (5) | NE | 7 (5) | DS | c.68_69delAG, c.5266dupC | c.5946delT |
Felix et al.30 | 106 | High-risk (PH ± FH) | 9 (8.5) | 0 | 9 (8.5) | DS | Complete | c.5946delT, c.156_157insAlu |
Palmero et al.31 | 18 | High-risk (PH ± FH) | 0 | 1 (7.1) | 1 (7.1) | OMM | Partial | Partial |
Fernandes et al.34 | 349 | High-risk (PH ± FH) | 49 (14) | 26 (7.5) | 75 (21.5) | DS + MLPA | Complete | Complete |
Alemar et al.32 | 418 | High-risk (PH ± FH) | 51 (12.2) | 31 (7.4) | 80 (19.1) | DS + MLPA | Complete | Complete |
de Souza Timoteo et al.60 | 157 | High-risk (PH ± FH) | 11 (7.0) | 5 (3.2) | 16 (10.2) | DS | Complete | Complete |
Cipriano Jr et al.38 | 44 | High-risk (PH ± FH) | 5 (11.4) | 7 (15.9) | 12 (27.3) | OMM + DS | Partial | Partial |
Bandeira et al.61 | 105 | High-risk (PH ± FH) | 10 (9.5) | 4 (3.8) | 14 (13.3) | DS + MLPA | complete | Complete |
da Costa E Silva Carvalho et al.39 | 95 | High-risk (PH ± FH) | 13 (13.7) | 4 (4.2) | 17 (17.9) | DS + MLPA | Complete | Complete |
Nagy et al.62 | 49 | High-risk PMP BC | 3 (6.1) | 2 (4.1) | 5 (10.2) | DS + MLPA | Complete | Complete |
Guindalini et al. (current study) | 1663 | BC referred to GT | 96 (5.8) | 72 (4.3) | 167 (10) | DS + MLPA | Complete | Complete |
