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

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

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]
9	White	PM	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]

PM Premenopausal
^aMLPA results
^*indicates the presence of a premature stop codon (cfr. nomenclature HGVS (Human Genome Variation Society))

ISSN: 1471-2407