Table 4.
BRCA1 and BRCA2 germline pathogenic mutations identified using NGS and MLPA in a South African cohort divided according to premenopausal diagnosis, triple negative status and ethnicity
| Total n = 108 | Dx < 50 n = 92 (85.2 %) | Dx > 50 n = 16 (14.8 %) | Total no. of mutations per ethnic group | ||||
|---|---|---|---|---|---|---|---|
| TNBC n = 14 (13.0 %) | Not TNBC n = 78 (72.2 %) | TNBC | |||||
| Black n = 85 (78.7 %) | n = 7 | n = 70 | n = 8 | 6 (7.1 %) | |||
| Mutations | BRCA1 | BRCA2 | BRCA1 | BRCA2 | BRCA1 | BRCA2 | |
| c.212G > A | - | c.1155G > A | c.582G > A | - | c.5771_5774delTTCA | ||
| - | - | c.1953_1954insA | c.9097_9098insA | - | - | ||
| White n = 16 (14.8 %) | n = 4 | n = 5 | n = 7 | 5 (31.3 %) | |||
| Mutations | BRCA1 | BRCA2 | BRCA1 | BRCA2 | BRCA1 | BRCA2 | |
| c.181 T > G | c.7934delG | - | c.7934delG | Exon 1a-2 del | - | ||
| - | - | - | c.5213_5216delCTTA | - | - | ||
| Indian n = 5 (4.6 %) | n = 2 | n = 2 | n = 1 | 2 (40.0 %) | |||
| Mutations | BRCA1 | BRCA2 | BRCA1 | BRCA2 | BRCA1 | BRCA2 | |
| c.3593 T > A | c.8754 + 1G > A | - | - | - | - | ||
| Coloured n = 2 (1.9 %) | n = 1 | n = 1 | 0 | 0 | |||
| Mutations | - | - | - | ||||
| Total mutations per subgroup | 5 (35.7 %) | 6 (7.7 %) | 2 (12.5 %) | ||||