Table 1 South African studies that investigated the prevalence of large genomic rearrangements in BRCA1 and BRCA2 for the various population groups
Study | Number of patients (percentage with positive results) | Population group | Detection method | Genes | Results |
|---|---|---|---|---|---|
Reeves et al. [10] | 90 (0.0) | All | Long range PCR for Dutch founders only | BRCA1 exon 13 del (IVS12-1643del3835) BRCA1 exon 22 (IVS21-36del510) | None detected |
60 (0.0) | Afrikaner | ||||
11 (0.0) | Jewish | ||||
19 (0.0) | British & European | ||||
Reeves [58] | 56 (1.8) | All | MLPA | BRCA1 only | BRCA1 exon 13 del in a Dutch immigrant |
55 (0.0) | White | ||||
1 (100) | Dutch immigrant | ||||
Sluiter and Van Rensburg [12] | 52 (1.9) | All | MLPA | BRCA1 and BRCA2 | BRCA1 exons 23–24 del in a SA Greek patient |
36 (0.0) | Afrikaner | ||||
16 (6.3) | Greek & other | ||||
Francies et al. [7] | 108 (0.9) | All | NGS | Â | BRCA1 1a-2 del in a White patient |
85 (0.0) | Black | ||||
2 (0.0) | Coloured | ||||
16 (6.3) | White | ||||
5 (0.0) | SA Indian | ||||
Chen [59] | 33 (0.0) | Black | MLPA | BRCA1 and BRCA2 | None detected |
Current study | 744 (0.9) | All | MLPA | BRCA1 and BRCA2 | Eight LGRs detected: complete BRCA2 deletion in a SA Indian patient; complete BRCA1 deletion in a Coloured patient; BRCA1 1a-2 del in a White non-Afrikaner and Zimbabwean patient; BRCA1 exon 12 dup in a White non-Afrikaner patient; BRCA1 4–6 del in a White non-Afrikaner patient; BRCA1 exon 17 del in a SA Indian patient; BRCA1 exon 21 del in a Black patient |
277 (0.4) | Black | ||||
140 (1.4) | SA Indian | ||||
132 (0.8) | Coloured | ||||
85 (3.5) 110 (0.0) | White non-Afrikaner Afrikaner |