Table 1 Prevalence of pathogenic mutations in HBOC susceptibility genes in Brazilian studies

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

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%)

Alemar et al. [14]

South

RS

Sanger sequencing and NGS for complete BRCA genes

HBOC

193

44/193 (22.8%)

26/193 (13.4%)

18/193 (9.3%)

Alemar et al. [15]

BRCA mutations Mass ARRAY MALDI-TOF panel

HBOC

232

8/232 (3.5%)

6/232 (2.6%)

2/232 (0.8%)

South

RS

DHPLC/HRM and sanger sequencing for BRCA genes/ MLPA

HBOC

18

5

1/18 (5.5%)

Palmero et al. [16]

HRM/Sanger sequencing for 2 TP53 exons

LFL

40

2

Sanger sequencing for CHEK2 1100delC mutation

HBCC

7

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%)

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%)

Brianese et al. [20]

Southeast

SP

HRM/Sanger sequencing for TP53 p. R337H mutation

HBOC

28

2/28 (7.1%)

2/28 (7.1%)

TP53

Cury et al. [21]

Southeast

SP

WES for non BRCA mutation carriers

HBOC

52

92

12/52 (23%)

12/52 (23%)

CHEK2/RAD51C/PMS2/DROSHA/HERPUD1/PLK2/RIPK1/CTNNA1 /LCP1 PTCH1/CTNNA2

Felício 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

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%)

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%)

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%)

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%)

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

0/103 (0%)

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

2/18 (11.1%)

2/18 (11%)

Oliveira et al. [32]

Southeast

RJ

Multiplex PCR for c.156_157insAlu BRCA2

HBOC

168

3/168 (1.8%)

3/168 (1.8%)

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

9/402 (2.3%)

6/402 (1.5%)

3/402 (0.7%)

Gomes et al. [35]

Southeast

RJ

Non BRCA NGS panel

HBOC

126

8

3/126 (2.4%)

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

4/83 (4.8%)

4/83 (4.8%)

TP53

Silva et al., [39]

Southeast, South and Northeast

RS, RJ and BA

MLPA for BRCA

HBOC

145

5/145 (3.4%)

2/145 (1.4%)

3/145 (2.0%)

Ewald et al. [40]

Southeast and South

RS and RJ

Sanger sequencing for 3 BRCA1 exons

HBOC

137

7/137 (5.1%)

7/137 (5.1%)

Ewald et al. [41]

Southeast and South

SP, RS and RJ

Multiplex PCR for c.156_157insAlu BRCA2

HBOC

1380

9/1380 (0.65%)

9/1380 (0.65%)

Felício 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

21/612 (3.4%)

18/612 (2.9%)

3/612 (0.5%)

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%)

Mazzonetto et al. [45]