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 1 Literature overview on BRCA1 and BRCA2 mutations detected in a South African population

Study (Reference)	Ethnic group	Gene	Mutation detected	Patients/families tested	Frequency (%)	Detection method
Yawitch & Van Rensburg 2000 [51]	Black	BRCA1	N/A	0/206	0	PTT and SSCP/HA; limited to regions with Afrikaner founder mutations
Reeves et al., 2004 [7]	White/Ashkenazi Jewish	BRCA1	c.68_69delAG	4/18	4.4	PTT and SSCP/HA
	White	BRCA1	c.329dupA	1/18	1.1
	White	BRCA1	c.1008dupA	1/18	1.1
	White	BRCA1	c.1352C > A; p.S451*	1/18	1.1
	White/Afrikaner	BRCA1	c.1374delC	2/18	2.2
	White/Afrikaner	BRCA1	c.2641G > T; p.E881*	5/18	5.6
	Indian	BRCA1	c.4957insC	1/18	1.1
	White/Ashkenazi Jewish	BRCA1	c.5266dupC	3/18	3.3
Schlebusch et al., 2010 [52]	White/Afrikaner, Ashkenazi Jewish, Black, Indian	BRCA1	N/A	26/129	20.2	PTT and SSCP/HA and MLPA
		BRCA2	N/A	43/129	33.3
Sluiter et al., 2011 [9]	White/Afrikaner	BRCA1 + BRCA2	N/A	0/36		MLPA
	White/Ashkenazi Jewish	BRCA1	Ex23-24del	1/30	3.3
		BRCA2	N/A	0/30
Van der Merwe et al., 2012 [10]	Coloured	BRCA1	c. 1504_1508delTTAAA	1/105	1.0	PTT and SSCP/HA
		BRCA1	c. 2641G > T;p. E881*	1/105	1.0
		BRCA2	c. 2826_2829delAATT	1/105	1.0
		BRCA2	c. 5771_5774delTTCA	4/105	3.8
		BRCA2	c. 6448dupTA	1/105	1.0
		BRCA2	c. 7934delG	1/105	1.0
	Black	BRCA2	c. 5771_5774delTTCA	4/16	25.0
Schoeman et al., 2013 [13]	White, Mixed Ancestry, Black	BRCA1	c. 2641G > T; p. E881*	7/302	2.3	SSCP/HA
		BRCA1	c. 68_69delAG	2/302	0.7
		BRCA1	c. 1374delC	2/302	0.7
		BRCA1	c. 5266dupC	1/302	0.3
		BRCA2	c. 7934delG	17/302	5.6
		BRCA2	c. 5771_5774delTTCA	7/302	2.3
		BRCA1	N/A	4/302	1.3	PTT
		BRCA2	N/A	5/302	1.7
		BRCA1	N/A	2/302	0.7	Sequencing
		BRCA2	N/A	2/302	0.7	Sequencing
		BRCA1	N/A	18/302	6.0

PTT protein truncation test, SSCP/HA PCR-single strand conformation polymorphism/heteroduplex analysis, N/A mutations were not described; * indicates the presence of a premature stop codon (cfr. nomenclature HGVS (Human Genome Variation Society))