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 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
Total n = 108	TNBC n = 14 (13.0 %)		Not TNBC n = 78 (72.2 %)		TNBC		Total no. of mutations per ethnic group
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	-		-		-		0
Total mutations per subgroup	5 (35.7 %)		6 (7.7 %)		2 (12.5 %)

ISSN: 1471-2407