Table 1 Literature overview on BRCA1 and BRCA2 mutations detected in a South African population

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