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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