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Table 3 BRCA1, BRCA2 and CHEK2 germline pathogenic mutations identified in triple negative and premenopausal breast cancer patients using NGS and MLPA

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

Patient no. Ethnicity Category Gene Exon Nucleotide change Amino acid change Mutation effect Reference
1 White TNBC/PM BRCA1 4 c.181 T > G p.Cys61Gly Missense [53]
2 Black TNBC/PM BRCA1 4 c.212G > A p.Arg71Lys Missense [54]
3 Indian TNBC/PM BRCA1 10 c.3593 T > A p.Leu1198* Nonsense [55]
4 Black PM BRCA1 10 c.1155G > A p.Trp385* Nonsense Novel
5 Black PM BRCA1 10 c.1953_1954insA p.Lys652fs Frameshift Novel
6 White TNBC BRCA1 a 1–2 - - Deletion [30]
7 Black PM BRCA2 7 c.582G > A p.Trp194* Nonsense Novel
8 Black TNBC BRCA2 11 c.5771_5774delTTCA p.Ile1924fs Frameshift [10]
9 White PM BRCA2 11 c.5213_5216delCTTA p.Thr1738fs Frameshift [56]
CHEK2 a 11 c.1100delC p.Thr367fs Frameshift [39]
10 White TNBC BRCA2 17 c.7934delG p.Arg2645fs Frameshift [10]
11 White PM BRCA2 17 c.7934delG p.Arg2645fs Frameshift [10]
12 Indian TNBC/PM BRCA2 21 c.8754 + 1G > A Non-coding Splice site [57]
13 Black PM BRCA2 23 c.9097_9098insA p.Thr3033fs Frameshift [53]
14 White PM CHEK2 a 11 c.1100delC p.Thr367fs Frameshift [39]
  1. PM Premenopausal
  2. aMLPA results
  3. *indicates the presence of a premature stop codon (cfr. nomenclature HGVS (Human Genome Variation Society))