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Table 1 Examples of BRCA1 and BRCA2 founder mutations

From: Founder populations and their uses for breast cancer genetics

Population Mutation Reference
African-Americans BRCA1 943ins10 [40,41]
  BRCA1 M1775R  
Ashkenazi Jews BRCA1 185delAG [31,34,38]
  BRCA1 5382insC  
  BRCA2 6174delT  
Belgians BRCA1 IVS5 +3A>G [42]
Dutch BRCA1 2804delAA [17,43]
  BRCA1 IVS 21-36del510  
  BRCA1 IVS 12-1643 del3835  
  BRCA2 5573insA  
Finns BRCA1 3745delT [27]
  BRCA1 IVS 11-2 A>G  
  BRCA2 999del5  
  BRCA2 IVS23-2A>G  
French-Canadians BRCA1 R1443X [39,44]
  BRCA2 8765delAG  
Germans BRCA1 5382insC [45]
  BRCA1 C61G  
Icelanders BRCA2 999del5 [28]
Latvians BRCA1 C61G [46]
  BRCA1 5382insC  
  BRCA1 4153delA  
Norwegians BRCA1 1675delA [47,48,49]
  BRCA1 1135insA  
Russians BRCA1 5382insC [50]
  BRCA1 4153delA  
Swedes BRCA1 Q563X [51]
  BRCA1 3166ins5  
  BRCA1 1201del11  
  BRCA1 2594delC  
  BRCA2 4486delG