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

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

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  
  1. 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))