|
Yawitch & Van Rensburg 2000 [51]
|
Black
|
BRCA1
|
N/A
|
0/206
|
0
|
PTT and SSCP/HA; limited to regions with Afrikaner founder mutations
|
|
Reeves et al., 2004 [7]
|
White/Ashkenazi Jewish
|
BRCA1
|
c.68_69delAG
|
4/18
|
4.4
|
PTT and SSCP/HA
|
| |
White
|
BRCA1
|
c.329dupA
|
1/18
|
1.1
| |
| |
White
|
BRCA1
|
c.1008dupA
|
1/18
|
1.1
| |
| |
White
|
BRCA1
|
c.1352C > A; p.S451*
|
1/18
|
1.1
| |
| |
White/Afrikaner
|
BRCA1
|
c.1374delC
|
2/18
|
2.2
| |
| |
White/Afrikaner
|
BRCA1
|
c.2641G > T; p.E881*
|
5/18
|
5.6
| |
| |
Indian
|
BRCA1
|
c.4957insC
|
1/18
|
1.1
| |
| |
White/Ashkenazi Jewish
|
BRCA1
|
c.5266dupC
|
3/18
|
3.3
| |
|
Schlebusch et al., 2010 [52]
|
White/Afrikaner, Ashkenazi Jewish, Black, Indian
|
BRCA1
|
N/A
|
26/129
|
20.2
|
PTT and SSCP/HA and MLPA
|
| | |
BRCA2
|
N/A
|
43/129
|
33.3
| |
|
Sluiter et al., 2011 [9]
|
White/Afrikaner
|
BRCA1 + BRCA2
|
N/A
|
0/36
| |
MLPA
|
| |
White/Ashkenazi Jewish
|
BRCA1
|
Ex23-24del
|
1/30
|
3.3
| |
| | |
BRCA2
|
N/A
|
0/30
| | |
|
Van der Merwe et al., 2012 [10]
|
Coloured
|
BRCA1
|
c. 1504_1508delTTAAA
|
1/105
|
1.0
|
PTT and SSCP/HA
|
| | |
BRCA1
|
c. 2641G > T;p. E881*
|
1/105
|
1.0
| |
| | |
BRCA2
|
c. 2826_2829delAATT
|
1/105
|
1.0
| |
| | |
BRCA2
|
c. 5771_5774delTTCA
|
4/105
|
3.8
| |
| | |
BRCA2
|
c. 6448dupTA
|
1/105
|
1.0
| |
| | |
BRCA2
|
c. 7934delG
|
1/105
|
1.0
| |
| |
Black
|
BRCA2
|
c. 5771_5774delTTCA
|
4/16
|
25.0
| |
|
Schoeman et al., 2013 [13]
|
White, Mixed Ancestry, Black
|
BRCA1
|
c. 2641G > T; p. E881*
|
7/302
|
2.3
|
SSCP/HA
|
| | |
BRCA1
|
c. 68_69delAG
|
2/302
|
0.7
| |
| | |
BRCA1
|
c. 1374delC
|
2/302
|
0.7
| |
| | |
BRCA1
|
c. 5266dupC
|
1/302
|
0.3
| |
| | |
BRCA2
|
c. 7934delG
|
17/302
|
5.6
| |
| | |
BRCA2
|
c. 5771_5774delTTCA
|
7/302
|
2.3
| |
| | |
BRCA1
|
N/A
|
4/302
|
1.3
|
PTT
|
| | |
BRCA2
|
N/A
|
5/302
|
1.7
| |
| | |
BRCA1
|
N/A
|
2/302
|
0.7
|
Sequencing
|
| | |
BRCA2
|
N/A
|
2/302
|
0.7
|
Sequencing
|
| | |
BRCA1
|
N/A
|
18/302
|
6.0
| |
