Skip to main content

Table 1 South African studies that investigated the prevalence of large genomic rearrangements in BRCA1 and BRCA2 for the various population groups

From: The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer

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   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