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Table 4 Common BRCA ½ mutation found in multiple Central and South American countries

From: Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Mutation in BRCA 1 Frequency of recurrent mutation (%)
Exon Mutation Country Hereditary Early-onset BC Unselected BC Hereditary BC Early-onset BC Unselected BC
2 c.68_69delAG Argentina      
Brazil    0.33%   
Chile    0.6%   
Mexico      
Peru      2.6%
5 c.181T>G Argentina    0.64%   
Brazil      
Chile      
5 c.211A>G Argentina    1.17%   
Brazil      
Mexico     
Peru      
11 c. 798_799delTT Argentina      
Mexico      
11 c.815_824dupAGCCATGTGG Mexico      
Peru      
11 c.2568T>G Argentina      
Uruguay      
11 c.3228_3229delAG Argentina      
Brazil      
11 c. 3331_3334delCAAG Brazil      
Chile    0.9%   
Colombia   9.4%   1.6%/11.4%a
11 c. 3858_3861delTGAG Mexico     
Peru      
11 c. 3858_3861delTGAG Chile      
Mexico      
11 c. 4065_4068delTCAA Mexico      
Peru      
13 c.4327>T Argentina      
Mexico     0.25%
18 c. 5123C>A Argentina      
Brazil      
Colombia   5.7%   1.3%
Mexico    0.5%
20 c.5266up C Argentina      
Brazil 2.5%/0.65%/5%a 3.7% 1.2%
Mutation in BRCA 2
 3 c.145G>T Argentina      
Chile    3.7%   
Mexico      
 11 c.2808_2811 delACAA Argentina    0.64%   
Brazil     
Colombia   3.8%   1.3%
Mexico     
Peru      0.75%
Venezuela      
 11 c.3264d up T Argentina      
Mexico      
 11 c.4740_4741insTG Argentina      
Chile    0.6%   
 11 c.5351dup A Argentina      
Uruguay      
 11 c. 5946delT Argentina      
Brazil      
Chile      
Costa Rica      
 11 c.6024dup G Argentina      
Colombia      
Mexico      
  1. BC breast cancer
  2. ✔ = Mutation present
  3. aValues obtained in different publication