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Table 3 Mutations present in more than one cohort

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

Country

Mutation

Exon

Hereditary BC

Early-onset BC

Unselected BC

BRCA1

 Brazil

c.5266dupC

20

✔a

✔a

✔a

 Brazil

c.560+2T>A

7

✔

✔

 

 Brazil

c.3331_3334delCAAG

11

✔

✔

 

 Brazil

c.5251C>T

20

✔

✔

 

 Colombia

c.3331_3334delCAAG

11

✔a

 

✔a

 Colombia

c.5123C>A

18

✔a

 

✔a

 Mexico

c.548?_4185?del

9_12

 

✔

✔

 Mexico

c.4065_4068delTCAA

11

✔

 

✔

 Mexico

c.2296-2297delAG

11

 

✔

✔

 Mexico

c.2433delC

11

✔

✔

✔

 Mexico

c.3598C>T

11

 

✔

✔

 Mexico

c.4327C>T

13

 

✔

✔

 Mexico

c.5123C>A

18

✔

✔

✔

 Mexico

c.211 A>G

5

✔

 

✔

 Mexico

c.3759_3760delTA

11

✔

 

✔

BRCA2

 Brazil

c.2808_2811delACAA

11

✔

✔

 

 Colombia

c.2808_2811delACAA

11

✔a

 

✔a

 Mexico

c.2808_2811delACAA

11

✔

 

✔

 Mexico

c.1796-1800delTTTAT

10

 

✔

✔a

 Mexico

c.4111C>T

11

 

✔

✔

  1. BC breast cancer
  2. ✔ = Mutation present
  3. aRecurrent mutation