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Table 1 BRCA1 and BRCA2 mutation spectrum in Hispanic populations

From: Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

   

BRCA1 a

BRCA2 a

Study

Population

n

Exon

HGVS cDNA

Protein Change

Exon

HGVS cDNA

Protein Change

Guitierrez-Espeleta et al. 2012 [14]

Costa Rica

111

11

c.3403C > T

p.Gln1135*

11

c.5279C > G

p.Ser1760*

     

11

c.5303_5304delTT

p.Leu1768Argfs*5

Weitzel JN et al. 2007 [9]

US Hispanics

110

9–12*

c.548-?_4185 + ?del (exon deletion)

p.Gly183Alafs*18

   

Weitzel JN et al. 2005 [26]

US Hispanics

110

2

c.66_67delAG (Mexico/Spain)

p.Glu23Valfs*17

11

c.2224C > T (Mexico)

p.Gln742*

  

11

c.1960A > T (Mexico)

p.Lys654*

9

c.729_732delTGAT (Mexico)

p.Asn243Lysfs*7

  

11

c.943ins10 (Mexico)

 

16

c.7757G > A (Mexico)

p.Trp2586*

  

11

c.2864C > A (Mexico/Spain)

p.Ser955_Ser956?fs

11

c.3189_3192delGTCA (Colombia)

p.Ser1064Leufs*12

  

11

c.1016dup (Cuba)

p.Val340Glyfs*6

11

c.3264_3265insT (Mexico)

p.Gln1089Serfs*10

  

11

c.3598C > T (Mexico)

p.Gln1200*

11

c.4936_4939delGAAA(Guatemala)

p.Glu1646Glnfs*23

  

11

c.1086_1141del (Mexico)

p.Asn363Serfs*2

18

c.8322_8323insT (El Salvador)

p. Met2775?Tyrfs*7

  

13

c.4327C > T (Mexico/Peru)

p.Arg1443*

23

c.9026_9030delATCAT (El Salvador)

p.Tyr3009Serfs*7

  

11

c.2296_2297delAG (Mexico)

p.Ser766*fs

   

Weitzel JN et al. 2013 [9]

US Hispanics

746

2

c.66_67delAG

p.Glu23Valfs*17

11

c.3264dupT

p.Gln1089Serfs*10

  

9–12*

c. 548-?_4185 + ?del (exon deletion)

p.Gly183Alafs*18

3

c.145G > T

p.Glu49*

  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

   
  

13

c.4327C > T

p.Arg1443*

   
  

11

c.3598C > T

p.Gln1200*

   
  

11

c.2864C > A

p.Ser955*

   

John EM et al. 2007 [10]

US Hispanics

393

2

c.66_67delAG

p.Glu23Valfs*17

   
  

11

c.3029_3030delCT

p.Pro1010Argfs*7

   
  

11

c.3759_3760delTA

p.Lys1254Glufs*12

   
  

11

c.4065_4068delTCAA

p.Asn1355Lysfs*10

   
  

17

c.5035_5039delCTAAT

p.Leu1679Tyrfs*2

   
  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

   

Gonzalez-Hormazabal et al. 2010 [16]

Chilean

362

2

c.68_69delAG

p.Glu23Valfs*17

11

c.4742_4743insTG

p.Glu1581Aspfs*37

  

11

c.3331_3334delCAAG

p.Gln1111Asnfs*5

11

c.5145_5148delGTAT

p.Tyr1716?Lysfs*8

  

11

c.3858_3861delTGAG

p.Ser1286Argfs*20

11

c.6275_6276delTT

p.Leu2092Profs*7

  

11

c.4066_4069delCAAG

p.Gln1356Lysfs*9

18

c.8068_8069delGT

p.Val2690Phefs*2

Donenberg T et al. 2010 [22]

Bahamas

214

15

c.4611_4612insG

p.Gln1538Alafs*36

 

None studied

 
  

2

c.66_67delAG

p.Glu23Valfs*17

   

Delgado L et al. 2011 [76]

Uruguay

111

11

c.2568 T > G

p.Tyr856*

11

c.5351_5352insA

p.Asn1784Lysfs*3

Rodriguez AO et al. 2012 [19]

Colombia

100

11

c.3331_3334delCAAG

p.Gln1111Asnfs*5

11

c.6024_6025insG

p.Gln2009Alafs*9

     

11

c.4889C > G

p.Ser1630*

Torres-Mejia et al. 2014 [77]

Mexican

810

9–12

c.548-?_4185 + ?del (exon deletion)

p.Gly183Alafs*8

10

c.1796_1800delTTTAT

p.Ser599*

  

11

c.1016dup

p.Val340Glyfs*6

11

c.2808_2811delACAA

p.Ala938Profs*21

  

11

c.2296_2297delAG

p.Ser766*fs

11

c.3264_3265insT

p.SGln1089Serfs*10

  

11

c.2071delA

p.Arg691Aspfs*10

11

c.6486_6489delACAA

p.Lys2162Asnfs*5

  

11

c.3598C > T

p.Gln1200*

11

c.4111C > T

p.Gln1371*

  

13

c.4327C > T

p.Arg1443*

   

Villareal-Garza et al. 2015 [40]

Mexico

188

9–12*

c. 548-?_4185 + ?del (exon deletion)

p.Gly183Alafs*8

11

c.6486_6489delACAA

p.Lys2162Asnfs*5

  

11

c.3858_3861delTGAG

p.Ser1286Argfs*20

11

c.6024_6025insG

p.Gln2009Alafs*9

  

11

c.4065_4068delTCAA

p.Asn1355Lysfs*10

   
  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

   
  

11

c.2806_2809delGATA

p.Asp936Serfs*63

   
  

11

c.3759_3760delTA

p.Lys1254Glufs*12

   
  

2

c.66_67delAG

p.Glu23Valfs*17

   
  

13

c.4327C > T

p.Arg1443*

   

Ewald IP et al. 2016 [32]

Portugal

145

16–17

c.(4986 + 1_4987-1)_(5074 + 1_5075-1)del (exon deletion)

 

3

c.156_157insAlu (Founder)

 
  

19

c.5177_5180delGAAA

p.Arg1726Lysfs*3

   

Peixoto A et al. 2009 [31]

Portugal

208

   

3

c.156_157insAlu (founder)

 

Rodriguez RC et al. 2008 [23]

Cuba

307

   

11

c.3166C > T

p.Gln1056*

     

11

c.2376C > A

p.Tyr792*

     

11

c.2564_2565delCA

p.Thr855Lysfs*25

Abugattas J et al. 2014 [18]

Peru

266

2

c.66_67delAG

p.Glu23Valfs*17

11

c.2808_2811delACAA

p.Ala938Profs*21

  

11

c.1961delA

p.Lys654Serfs*47

   
  

11

c.3759_3760delTA

p.Lys1254Glufs*12

   

Dutil J et al. 2012 [24]

Puerto Rico

23

1-2

c.(?_-48)_(80 + 1_81-1)del (exon deletion)

 

11C

c.3922G > T (only observed in PR)

p.Glu1308*

     

11E

c.5799_5802delCCAA

p.Asn1933Lysfs*29

      

c.6393del

p.Lys2131Asnfs*6

     

11 F

c.6486_6489delACAA

p.Lys2162Asnfs*5

     

15

c.7480C > T

p.Arg2494*

Calderon-Guarcidueñas et al. 2005 [25]

Mexican

22

   

19

c.8377G > A (missense)

p.Gly2793Arg

Torres D et al. 2007 [20]

Colombia

57

11D

c.3331_3334delCAAG (founder)

p.Gln1111Asnfs*5

11B

c.2808_2811delACAA (founder)

p.Ala938Profs*21

  

18

c.5123C > A (founder) (missense)

p.Ala1708Glu

11B

c.5851_5854delGTTA

p.Ser1951Trpfs*11

     

11 F

c.6275_6276delTT

p.Leu2092Profs*7

Lara K et al. 2012 [21]

Venezuela

58

11

c.1016dup

p.Val340Glyfs*6

11

c.2808_2811delACCA

p.Ala938Profs*21

  

14

c.4603G > T

p.Glu1535*

11

c.3680_3681delTG

p.Leu1227Glnfs*5

Gomes M et al. 2007 [12]

Brazil

402

11C

c.3228_3229delAG

p.Gly1077Alafs*8

11 F

c.6405_6409delCTTAA

p.Asn2135Lysfs*3

  

20

c.5263dupC (founder)

p.Glu1756Profs*4

   

da Costa ECB et al. 2008 [41]

Brazil

7

20

c.5263dupC (founder)

p.Glu1756Profs*4

   

Ewald IP et al. 2011 [37]

Brazil

137

2

c.66_67delAG

p.Glu23Valfs*17

11

c.5722_5723del

p.Leu1908Argfs*2

Dufloth RM et al. 2005 [38]

Brazil

31

20

c.5263dupC (founder)

p.Glu1756Profs*4

11

c.6656C > G

p.Ser2219*

Gallardo M et al. 2006[15]

Chile

77

11D

c.3817C > T

p.Gln1273*

11

c. 5946delT

p.Ser1982Argfs*22

  

5

c.189dup

p.Cys64Metfs*2

11

c.6629_6630delAA

p.Glu2210Glyfs*14

  

2

c.66_67delAG

p.Glu23Valfs*17

11

c.145G > T

p.Glu49*

Lourenco J et al. 2004 [13]

Brazil

47

20

c.5263dupC (founder)

p.Gln1756Profs*4

   
  

11D

c.3403C > T

p.Gln1135*

   
  

11D

c.3331_3334delCAAG

p.Gln1111Asnfs*5

   

Solano AR et al. 2012 [17]

Argentina

134

2

c.66_67delAG

p.Glu23Valfs*17

11

c.2808_2811delACAA

p.Ala938Profs*21

  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

11

c.6037A > T

p.Lys2013*

  

7

c.427G > T

p. Glu143*

   
  

11

c.797_798delTT

p.Ser267Lysfs*19

   
  

11

c.1504_1507del

p.Leu502Serfs*29

   
  

11

c.1519delC

p.Arg507Aspfs*25

   
  

11

c.507_508delAA

p.Arg170Aspfs*11

   
  

11

c.2686delA

p.Ser896Valfs*104

   
  

11

c.2728C > T

p. Gln910*

   
  

11

c.3607C > T

p. Arg1203*

   
  

11

c.3627insA

p.Glu1210Argfs*8

   
  

11

c.3758_3759delCT

p. Ser1253*

   
  

17

c.5030_5033delCTAA

p.Thr1677Ilefs*2

   

BIC Database

Portugal

 

5

c.211A > G (Galician founder) (founder)

p.Arg71Gly

3

c.156_157insAlu

 
  

11

c.3689 T > G

p.Leu1230*

   

Blay P et al. 2013 [28]

Spain (Asturias)

256

2

c.66_67delAG

p. Glu23Valfs*17

3

c.262_263delCT

p.Leu88Alafs*12

  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

11

c.2830A > T

p.Lys944*

  

8

c.470_471delCT

p.Ser157*

11

c.5116_5119delAATA

p.Asn1706Leufs*5

  

11

c.1687C > T (Spain founder)

p.Gln563*

11

c.5576_5579delTTAA

p.Ile1859Lysfs*3

  

11

c.2900_2901dupCT

p.Pro968Leufs*33

18

c.8042_8043delCA

p.Thr2681Serfs*11

  

11

c.3331_3334delCAAG

p.Gln1111Asnfs*5

23

c.9026_9030delATCAT

p.Tyr3009Serfs*7

  

11

c.3689 T > G

p.Leu1230*

25

c.9310_9311delAA

p.Lys3104Valfs*6

  

11

c.3770_3771delAG

p.Glu1257Glyfs*9

   
  

11

c.4065_4068delTCAA

p.Asn1355Lysfs*10

   
  

1–24

c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion)

    
  

1–13

c.(?_-48)_(4357 + 1_4358-1)del (exon deletion)

    
  

20

c.5213_5277 + 3182delinsT (exon deletion)

    

Fachal L et al. 2014 [29]

Spain (Galicia)

651

1-2

c.(?_-48)_(80 + 1_81-1)del (exon deletion)

    
  

1–24

c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion)

    
  

1–13

c.(?_-48)_(4357 + 1_4358-1)del (exon deletion)

    

de Juan Jimenez I et al. 2013 [30]

Spain

1763

1-2

c.(?_-48)_(80 + 1_81-1)del (exon deletion)

 

3

c.145G > T

p.Glu49*

  

1-24

c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion)

 

3

c.262_263delCT

p.Leu88Alafs*12

  

20

c.5213_5277 + 3182delinsT (exon deletion)

 

4

c.370delA

p.Met124Trpfs*12

  

2

c.68_69delAG

p.Glu23Valfs*17

10

c.1310_1313delAAGA

p.Lys437Ilefs*22

  

5

c.211A > G (Galician founder) (missense)

p.Arg71Gly

11

c.2808_2811delACAA

p.Ala938Profs*21

  

11

c.981_982delAT

p.Cys328*

11

c.3170_3174delAGAAA

p.Lys1057Thrfs*8

  

11

c.1504_1508delTTAAA

p.Leu502Alafs*2

11

c.3264_3265insT

p.Gln1089Serfs*10

  

11

c.1687C > T

p.Gln563*

11

c.3847_3848delGT

p.Val1283Lysfs*2

  

11

c.1953_1956delGAAA

p.Lys653Serfs*47

11

c.3922G > T

p.Glu1308*

  

11

c.2694dup

p.Val899Serfs*4

11

c.4936_4939delGAAA

p.Glu1646Glnfs*23

  

11

c.3257 T > G

p.Leu1086*

11

c.5130_5133delATGT

p.Tyr1710*

  

11

c.3331_3334delCAAG

p.Gln1111Asnfs*5

11

c.5576_5579delTTAA

p.Ile1859Lysfs*3

  

11

c.3359_3360delTT

p.Val1120Glufs*12

11

c.6275_6276delTT

p.Leu2092Profs*7

  

11

c.3583delC

p.His1195Ilefs*15

11

c.6486_6489delACAA

p.Lys2162Asnfs*5

  

11

c.3627dup

p.Glu1210Argfs*9

11

c.6629_6630delAA

p.Glu2210Glyfs*14

  

11

c.3700_3704del

p.Val1234Glnfs*8

18

c.8042_8043delCA

p.Thr2681Serfs*11

  

11

c.3759dup

p.Lys1254*

23

c.9018C > A

p.Tyr3006*

  

11

c.3770_3771delAG

p.Glu1257GlyfsX9

23

c.9026_9030delATCAT

p.Tyr3009Serfs*7

  

11

c.3785C > A

p.Ser1262*

25

c.9286G > T

p.Glu3096*

  

11

c.4065_4068delTCAA

p.Asn1355Lysfs*10

   
  

12

c.4161_4162delTC

p.Gln1388Glufs*2

   
  

13

c.4307_4308delCT

p.Ser1436Phefs*4

   
  

13

c.4357delG

p.Ala1453Glnfs*3

   
  

14

c.4375A > T

p.Lys1459*

   
  

15

c.4552C > T

p.Gln1518*

   
  

16

c.4810C > T

p.Gln1604*

   
  

17

c.5030_5033delCTAA

p.Thr1677Ilefs*2

   
  

20

c.5363_5364insC

p.Ala1789Lysfs*41

   
  

21

c.5311_5333del

p.Pro1771Serfs*51

   
  1. *According to ClinVar Summary Evidence for this BRCA1 c.548-?_4185 + ?del mutation is also referenced to as a deletion in exons 8–11. However, in the literature revised was referenced as exon deletion 9–12. Both names are synonymous for the same mutation. Please see https://www.ncbi.nlm.nih.gov/clinvar/variation/219772/#summary-evidence for more information.
  2. aMissense mutations pathogenicity status was verified as pathogenic or likely pathogenic by the following databases: ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and Invitae (http://clinvitae.invitae.com/).