Table 4 Prevalence of TP53 germline variants in HBOC patients in Brazil.
From: Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
Reference | n | Inclusion criteria | TP53 covered region | TP53 R337H, n (%) | TP53 mutations, n (%) | Region of Brazil |
|---|---|---|---|---|---|---|
Palmero et al.9 | 750 | Population screening | R337H | 2 (0.3) | 2 (0.3) | South |
Assumpção et al.40 | 123 | Unselected BC | Exon 10 | 3 (2.4) | 3 (2.4) | Southeast |
Gomes et al.41 | 390 | Unselected BC | R337H | 2 (0.5) | 2 (0.5) | Southeast |
Giacomazzi et al.45 | 815 | Unselected BC | R337H | 70 (8.6) | 70 (8.6) | South/Southeast |
Carraro et al.24 | 54 | BC < 35 years | Complete gene with DS | 0 (0.0) | 1 (2) | Southeast |
Giacomazzi et al.45 | 59 | High-risk BC | R337H | 2 (3.4) | 2 (3.4) | South |
Cury et al.44 | 28 | High-risk BC | Complete gene with HRM | 2 (7.1) | 2 (7.1) | Southeast |
Silva et al.27 | 120 | High-risk BC | R337H | 3 (2.5) | 3 (2.5) | Southeast |
Felix et al.30 | 106 | High-risk BC | R337H | 1 (0.9) | 1 (0.9) | Northeast |
da Costa E Silva Carvalho et al.39 | 94 | High-risk BC | Complete gene with DS | 5 (5.3) | 6 (6.4) | Southeast |
Bandeira et al.62 | 105 | High-risk BC | Complete gene with DS | 1 (0.9) | 1 (0.9) | Southeast |
Cipriano Jr et al.38 | 44 | High-risk BC | R337H | 1 (2.3) | 1 (2.3) | Southeast |
de Souza Timoteo et al.60 | 132 | High risk BC | Complete gene with DS | 0 (0.0) | 0 (0.0) | Northeast |
Gomes et al.48 | 126 | High risk breast and ovarian cancer | Complete gene with DS | 0 (0.0) | 1 (0.8) | Southeast |
Sandoval et al.46 | 224 | High risk BC | Complete gene with DS | 6 (2.7) | 8 (3.6) | Central West |
Guindalini et al. (current study) | 1663 | BC refered to GT | Complete gene with DS | 26 (1.6) | 37 (2.2) | All |
