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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

From: BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer

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 %)