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Table 2 Most frequently identified pathogenic mutations in the BRCA genes in Brazilian HBOC studies

From: Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario

Reference

T.2018

S.2014

F.2016

F.2014

E.2016

E.2011

L.2004

B.2017

B.2017

B.2020

M.2016

D.2005

C.2018

G.2007

C.2013

E.2009

C.2020

A.2017

M.2012

F.2018

G.2022

S.2021

M.2022

M. 2023

N.2021

E.2018

Total

Sample (n)

157

120

349

106

145

137

47

94

131

105

100

31

44

402

54

612

95

418

168

1380

1663

224

257

1267

49

79

BRCA1

 c.5266dupC

4

3

18

  

7

4

1

1

1

3

1

2

5

2

4

11

9

  

28

3

 

20

 

1

128

 c.3331_3334delCAAG

  

8

4

      

3

 

1

 

1

1

1

1

  

13

  

14

 

1

49

 c.211A > G

   

5

    

1

1

          

3

 

1

6

 

1

18

 c.1687C > T

  

2

      

1

1

      

2

  

5

2

1

3

  

17

BRCA2

 c.156_157insAlu

  

1

 

3

           

1

1

3

9

5

1

2

1

  

27

 c.2808_2811delACAA

 

1

3

           

1

 

1

3

  

5

 

1

8

 

2

25

 c.6405_6409delCTTAA

  

2

      

1

   

2

   

1

  

5

1

 

6

  

18

 c.2 T > G

  

2

         

2

    

1

  

3

 

2

1

1

 

12

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European Journal of Medical Research

ISSN: 2047-783X

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