Region of Brazil | State | Method | Population based on clinical criterias | n | VUS | % pathogenic mutations | % BRCA1 mutations | % BRCA2 mutations | % other genes mutations | Other genes mutated | References |
---|---|---|---|---|---|---|---|---|---|---|---|
Northeast | RN | NGS panel including BRCA genes | HBOC | 157 | 4 | 23/157 (14.6%) | 11/157 (7.0%) | 5/157 (3.1%) | 7/157 (4.4%) | ATM/ATR/CDH1/MLH1 | Timóteo et al. [12] |
Northeast | BA | AS-PCR/RFLP/Sanger sequencing for complete BRCA1/point mutations in BRCA2, TP53 and CHEK2 | HBOC | 106 | Â | 10/106 (9.4%) | 9/106 (8.5%) | 0/106 (0%) | 1/106 (0.9%) | TP53 | Felix et al. [13] |
South | RS, SC and PR | Sanger sequencing and NGS for complete BRCA genes/ MLPA | HBOC | 418 | 24 | 83/418 (19.8%) | 51/418 (12.2%) | 32/418 (7.6%) | Â | Â | Alemar et al. [14] |
South | RS | Sanger sequencing and NGS for complete BRCA genes | HBOC | 193 | Â | 44/193 (22.8%) | 26/193 (13.4%) | 18/193 (9.3%) | Â | Â | Alemar et al. [15] |
BRCA mutations Mass ARRAY MALDI-TOF panel | HBOC | 232 | Â | 8/232 (3.5%) | 6/232 (2.6%) | 2/232 (0.8%) | Â | Â | |||
South | RS | DHPLC/HRM and sanger sequencing for BRCA genes/ MLPA | HBOC | 18 | 5 | Â | Â | 1/18 (5.5%) | Â | Â | Palmero et al. [16] |
HRM/Sanger sequencing for 2 TP53 exons | LFL | 40 | 2 | Â | Â | Â | Â | Â | |||
Sanger sequencing for CHEK2 1100delC mutation | HBCC | 7 | Â | Â | Â | Â | 1/7 (14.2%) | CHEK2 | |||
Southeast | SP | NGS for complete BRCA genes/ MLPA | HBOC | 94 | 10 | 10/94 (10.7%) | 5/94 (5.3%) | 5/94 (5.3%) | Â | Â | Buzolin et al. [17] |
Southeast | SP | Sanger sequencing for complete BRCA genes/point mutation in TP53 and CHEK2 genes/MLPA and array-CGH for other genes | HBOC | 120 | 19 | 31/120 (26%) | 20/120 (16.7%) | 7/120 (5.8%) | 4/120 (3.3%) | TP53 / CHEK2 | Silva et al. [18] |
Southeast | SP | Sanger sequencing and NGS for complete BRCA genes/TP53 for 274 patients/MLPA | HBOC | 349 | 36 | 75/349 (21.5%) | 49/349 (14.0%) | 26/349 (7.4%) | 9/274 (3.3%) | TP53 | Fernandes et al. [19] |
Southeast | SP | NGS for complete BRCA genes/MLPA | Triple negative Breast Cancer | 131 | 7 | 18/131 (13.7%) | 16/131 (12.2%) | 2/131 (1.5%) | Â | Â | Brianese et al. [20] |
Southeast | SP | HRM/Sanger sequencing for TP53 p. R337H mutation | HBOC | 28 | Â | 2/28 (7.1%) | Â | Â | 2/28 (7.1%) | TP53 | Cury et al. [21] |
Southeast | SP | WES for non BRCA mutation carriers | HBOC | 52 | 92 | 12/52 (23%) | Â | Â | 12/52 (23%) | CHEK2/RAD51C/PMS2/DROSHA/HERPUD1/PLK2/RIPK1/CTNNA1 /LCP1 PTCH1/CTNNA2 | FelÃcio et al. [22] |
Southeast | SP | NGS panel including BRCA genes/ MLPA | HBOC | 105 | 15 | 17/105 (16.2%) | 10/105 (9.5%) | 3/105 (2.8%) | 4/105 (3.8%) | ATM/TP53/RAD51/BIRP1 | Bandeira et al. [23] |
Southeast | SP | Non BRCA NGS panel | HBOC | 52 | 11 | Â | Â | Â | 2/52 (3.8%) | MUTYH/MRE11A | Grasel et al. [24] |
Southeast | SP | Sanger sequencing or NGS for complete BRCA genes and MLPA | Ovarian cancer | 100 | 19 | 19/100 (19%) | 17/100 (17.0%) | 2/100 (2.1%) | Â | Â | Maistro et al. [25] |
Southeast | SP | SSCP and sanger sequencing for four BRCA1 exons and three BRCA2 exons | HBOC | 31 | 1 | 3/31 (9,67%) | 1/31 (3.2%) | 2/31 (6.4%) | Â | Â | Dufloth et al. [26] |
Southeast | SP | Sanger sequencing for complete BRCA genes/TP53 and CHEK2 c.1100delC | HBOC | 54 | 12 | 12/54 (22.2%) | 7/54 (12.9%) | 4/54 (7.4%) | 1/54 (1.8%) | TP53 | Carraro et al. [27] |
Southeast | SP | NGS panel/ MLPA | HBOC | 95 | 72 | 22/95 (23.4%) | 13/95 (13.6%) | 4/95 (4.2%) | 5/95 (5.2%) | TP53 | Carvalho et al. [7] |
Southeast | SP | Sanger sequencing or NGS for complete BRCA genes and MLPA | HBOC | 49 | 8 | 5/49 (10.2%) | 3/49 (6.1%) | 2/49 (4.1%) | Â | Â | Nagy et al. [28] |
Southeast | SP | Sanger sequencing for complete BRCA genes/MLPA | HBOC | 79 | 29 | 13/79 (16.5%) | 4/79 (5.1%) | 9/79 (11.4%) | Â | Â | Encinas et al. [29] |
Southeast | MG | Microarray for pontual BRCA mutations, qPCR for TP53 p. R337H/Multiplex PCR for c.156_157insAlu BRCA2 | Ovarian cancer | 103 | Â | 0/103 (0%) | Â | Â | Â | Â | Schayek et al. [30] |
Southeast | MG | HRM and Sanger Sequencing for BRCA genes/Sanger Sequencing for TP53 p. R337 and CHEK2 1100delC mutations | HBOC | 44 | 1 | 13/44 (29.5%) | 5/44 (11.3%) | 7/44 (15.9%) | 1/44 (2.2%) | TP53 | Cipriano et al. [31] |
Southeast | MG | HRM and Sanger Sequencing for BRCA1/MLPA | HBOC | 18 | Â | 2/18 (11.1%) | 2/18 (11%) | Â | Â | Â | Oliveira et al. [32] |
Southeast | RJ | Multiplex PCR for c.156_157insAlu BRCA2 | HBOC | 168 | Â | 3/168 (1.8%) | Â | 3/168 (1.8%) | Â | Â | Moreira et al. [33] |
Southeast | RJ | Sanger sequencing for complete BRCA1 gene | HBOC | 47 |  | 7/47 (15%) | 7/47 (15.0%) |  |  |  | Lourenço et al. [34] |
Southeast | RJ | DHPLC/PTT/DGGE/Sanger sequencing for pontual mutations in BRCA genes | Breast cancer | 402 | Â | 9/402 (2.3%) | 6/402 (1.5%) | 3/402 (0.7%) | Â | Â | Gomes et al. [35] |
Southeast | RJ | Non BRCA NGS panel | HBOC | 126 | 8 | 3/126 (2.4%) | Â | Â | 3/126 (2.4%) | ATM / PALB2/ TP53 | Gomes et al. [36] |
Southeast | RJ | NGS panel/Sanger sequencing | HBOC | 257 | 27 | 39/257 (15.2%) | 18/257 (7%) | 15/257 (5.8%) | 6/257 (2.3%) | TP53/ ATM/ BARD1 | Matta et al. [37] |
Midwest | DF | NGS panel/BRCA1/2 sequencing | HBOC (85.3%) | 224 | 140 | 39/224 (17.5%) | 12/224 (5.4%) | 6/224 (2.7%) | 21/224 (9.4%) | ATM/ BARD1/ MUTYH/ MSH6/ PALB2/ RAD51C/ RAD51D/ RECQL4/ TP53 | Sandoval et al. [38] |
Midwest | GO | NGS for TP53 | HBOC | 83 | Â | 4/83 (4.8%) | Â | Â | 4/83 (4.8%) | TP53 | Silva et al., [39] |
Southeast, South and Northeast | RS, RJ and BA | MLPA for BRCA | HBOC | 145 | Â | 5/145 (3.4%) | 2/145 (1.4%) | 3/145 (2.0%) | Â | Â | Ewald et al. [40] |
Southeast and South | RS and RJ | Sanger sequencing for 3 BRCA1 exons | HBOC | 137 | Â | 7/137 (5.1%) | 7/137 (5.1%) | Â | Â | Â | Ewald et al. [41] |
Southeast and South | SP, RS and RJ | Multiplex PCR for c.156_157insAlu BRCA2 | HBOC | 1380 | Â | 9/1380 (0.65%) | Â | 9/1380 (0.65%) | Â | Â | FelÃcio et al. [42] |
Southeast, South and Northeast | SP, PI, RJ and RS | Sanger sequencing/PPT for BRCA1 exon 11 and BRCA2 exons 10 and 11 | HBOC | 612 | Â | 21/612 (3.4%) | 18/612 (2.9%) | 3/612 (0.5%) | Â | Â | Esteves et al. [43] |
All regions | - | NGS panel/ MLPA | HBOC | 1663 | 775 | 278/1663 (16.7%) | 92/1663 (5.5%) | 64/1663 (3.8%) | 122/1663 (7.3%) | ATM/ BARD1/ BLM/ BRIP1/ CHEK2/ FANCC/ MLH1/ MSH2/ MUTYH/ NBN/ PALB2/ RAD51C/ RAD51D/ TP53 | Guindalini et al. [44] |
All regions | - | Sanger sequencing or NGS for complete BRCA genes/MLPA | HBOC | 1267 | 31 | 156/1267 (12,3) | 93/1267 (7,3%) | 63/1267 (5%) | Â | Â | Mazzonetto et al. [45] |