Total Latin Americans
        Heterogeneity Publication Bias       Heterogeneity Publication Bias
Mutation # of studies n/N Freq (95% CI), % Q–test I2–test Model Begg’s test Egger’s test # of studies n/N Freq (95% CI), % Q-test I2-test Model Begg’s test Egger’s test
BRCA1                                
Allpathogenic 32 215/ 9938 5.70 (4.12–7.53) <0.01 90.80% RE 0.04 0.01 9 185/2096 8.60 (3.68–15.31)  <0.01 94.70% RE 0.48 0.08
del exon 9-12 11 88/4811 1.45 (0.61–2.63) <0.01 83.30% RE 0.22 0.5 5 44/1676 3.35 (1.18–6.57) <0.01 87.00% RE 0.48 0.13
185delAG 29 85/7245 0.90 (0.50–1.42) <0.01 68.50% RE 0.04 0.05 9 22/1906 0.94 (0.18–2.29) <0.01 79.00% RE 0.76 0.14
R71G 21 30/5007 0.64 (0.43–0.87) 0.53 0.00% FE 0.09 0.71 7 12/1086 1.24 (0.67–1.98) 0.73 0.00% FE 0.56 0.36
A1708E 21 32/5786 0.58 (0.40–0.79 0.27 14.20% FE 0.37 0.53 8 10/1896 0.67 (0.35–1.08) 0.98 0.00% FE 0.72 1
5382insC 28 25/6554 0.54 (0.25–0.94) <0.01 61.40% RE <0.01 0.01 8 1/1380 0.13 (0.01–0.39) 0.61 0.00% FE <0.01 0.33
del exon 16-17 7 18/3369 0.54 (0.32–0.82) 0.19 31.80% FE 0.56 0.92 3 1/663 0.17 (0.00–0.62) 0.19 40.70% FE N/A N/A
del exon 1-2 7 21/3369 0.46 (0.10–1.09) 0.06 51.00% RE 0.14 0.97 3 2/729 0.51 (0.01–2.37) 0.04 68.10% RE N/A N/A
2552delC 25 20/6974 0.34 (0.22–0.49) 0.88 0.00% FE 0.01 0.81 8 7/1896 0.46 (0.21–0.81) 0.82 0.00% FE 0.4 0.96
R1443X 22 13/5828 0.29 (0.13–0.53) 0.09 30.50% RE <0.01 0.1 8 11/1896 0.64 (0.33–1.04) 0.4 3.80% FE 0.72 0.46
917delTT 23 Dec-35 0.20 (0.10–0.33) 0.11 28.10% FE 0.01 0.06 7 6/1086 0.68 (0.28–1.25) 0.8 0.00% FE 0.77 0.6
3148delCT 25 Dec-47 0.20 (0.11–0.33) 0.79 0.00% FE <0.01 0.83 8 1/1896 0.10 (0.01–0.29) 0.61 0.00% FE 0.01 0.31
943ins10 25 Aug-11 0.12 (0.05–0.22) 0.17 21.40% FE <0.01 0.07 8 6/1380 0.65 (0.01–1.76) 0.02 59.40% RE 0.06 0.23
3450del4 25 Nov-74 0.15 (0.07–0.25) 0.11 26.30% FE <0.01 0.15 8 0/1896 N/A          
Q1200X 25 Aug-47 0.15 (0.07–0.25) 0.76 0.00% FE <0.01 0.18 8 7/1896 0.45 (0.20–0.80) 0.71 0.00% FE 0.55 0.71
C61G 21 Apr-07 0.12 (0.04–0.23) 0.67 0.00% FE <0.01 0.05 7 0/1086 N/A          
3878delTA 25 Jun-47 0.11 (0.05–0.20) 0.51 0.00% FE <0.01 0.02 8 4/1896 0.39 (0.06–0.99) 0.08 44.90% RE 0.55 0.08
2925del4 25 Jul-11 0.11 (0.04–0.20) 0.21 17.80% FE <0.01 0.04 8 7/1380 0.93 (0.17–2.29) 0.01 63.10% RE 0.18 0.06
C1787S/D1788G 22 Jun-98 0.11 (0.04–0.20) 0.52 0.00% FE <0.01 0.21 8 6/1896 0.40 (0.07–0.97) 0.09 41.80% RE 0.18 0.28
S955X 25 May-47 0.11 (0.03–0.17) 0.83 0.00% FE <0.01 0.27 8 4/1896 0.23 (0.07–0.50) 0.41 3.00% FE 0.06 0.56
1129insA 25 Apr-11 0.10 (0.04–0.20) 0.82 0.00% FE <0.01 0.13 8 2/1380 0.26 (0.06–0.60) 0.86 0.00% FE 0.18 0.83
2415delAG 25 Mar-11 0.10 (0.03–0.20) 0.96 0.00% FE <0.01 0.15 8 3/1380 0.34 (0.10–0.71) 0.8 0.00% FE 0.11 0.47
K654X 25 Feb-11 0.09 (0.03–0.18) 0.98 0.00% FE <0.01 0.19 8 1/1380 0.13 (0.01–0.39) 0.61 0.00% FE <0.01 0.33
S1040N 23 Apr-83 0.08 (0.03–0.17) 0.51 0.00% FE <0.01 0.06 7 1/1086 0.16 (0.01–0.48) 0.57 0.00% FE <0.01 0.3
3977del4 25 Feb-47 0.08 (0.03–0.16) 0.97 0.00% FE <0.01 0.17 8 1/1896 0.10 (0.01–0.29) 0.62 0.00% FE 0.01 0.31
4184del4 26 Feb-89 0.08 (0.03–0.16) 0.97 0.00% FE <0.01 0.17 8 1/1896 0.09 (0.01–0.28) 0.55 0.00% FE <0.01 0.27
Q1135X 25 Feb-47 0.08 (0.03–0.16) 0.98 0.00% FE <0.01 0.23 8 0/1896 N/A          
R1751X 22 Feb-07 0.08 (0.02–0.18) 0.83 0.00% FE <0.01 0.13 7 1/1086 0.17 (0.01–0.50) 0.63 0.00% FE 0.03 0.35
2080delA 25 Mar-47 0.08 (0.02–0.16) 0.89 0.00% FE <0.01 0.16 8 0/1896 N/A          
IVS7+2T>A 13 Feb-56 0.07 (0.01–0.18) 0.45 0.00% FE <0.01 0.15 3 0/837 N/A          
BRCA2                                 
Allpathogenic 28 215/ 9277 4.31 (2.54–6.52) <0.01 94.70% RE 0.04 <0.01 8 56/1896 3.08 (1.52–5.15) <0.01 72.70% RE 0.4 0.32
H372N 24 56/6554 0.88 (0.24–1.92) <0.01 90.90% RE <0.01 0.11 8 0/1896 N/A          
E49X 18 Oct-39 0.38 (0.13–0.75) 0.03 41.90% RE <0.01 0.07 7 6/1086 0.68 (0.28–1.25) 0.77 0.00% FE 0.77 0.63
3492insT 24 24/6554 0.37 (0.24–0.53) 0.29 12.10% FE <0.01 1 8 12 /1896 0.60 (0.15–1.36) 0.05 50.30% RE 0.18 0.52
6174delT 25 14/6725 0.32 (0.13–0.60) <0.01 51.30% RE <0.01 0.03 8 0/1896 N/A          
Q742X 24 Mar-18 0.23 (0.05–0.56) 0.22 26.60% FE 0.28 0.09 8 3/1380 0.09 (0.03–0.18) 0.83 0.00% FE <0.01 0.07
E1308X 24 Nov-54 0.20 (0.11–0.32) 0.77 0.00% FE <0.01 0.92 8 0/1896 N/A          
G2793R 18 May-39 0.14 (0.05–0.27) 0.54 0.00% FE <0.01 0.27 7 5/1086 0.57 (0.21–1.10) 0.74 0.00% FE 0.24 0.76
3036del4 24 Jul-54 0.11 (0.05–0.21) 0.29 12.60% FE <0.01 0.03 8 1/1896 0.15 (0.03–0.37) 0.98 0.00% FE 0.06 0.67
W2586X 18 Feb-02 0.10 (0.02–0.23) 0.76 0.00% FE <0.01 0.16 7 2/614 0.56 (0.11–1.33) 0.7 0.00% FE 0.14 0.23
R3128X 18 Feb-39 0.09 (0.02–0.19) 0.75 0.00% FE <0.01 0.15 7 0/1086 N/A          
6503delTT 24 Mar-54 0.08 (0.03–017) 0.86 0.00% FE <0.01 0.16 8 0/1896 N/A          
3034del 4 24 Feb-54 0.07 (0.02–0.15) 0.92 0.00% FE <0.01 0.12 8 0/1896 N/A          
6714del4 24 Feb-54 0.07 (0.02–0.15) 0.91 0.00% FE <0.01 0.12 8 1/1896 0.10 (0.01–0.29) 0.62 0.00% FE 0.01 0.31
Abbreviations: n: Total Number of Subjects; N: Number of Subjects Positive for the Mutation; FE: Fixed–Effects Model; RE: Random–Effects Model; N/A: Not Applicable.
Table 3: Common BRCA1 and BRC2 pathogenic mutations identified in two or more studies