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Table 2 BRCA1 variants

From: BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway

No of families

HGVS

 

Type of mutation

No.of ind.

No. of fam.

Average no of carr./fam

Percentage of carriers/families

Previous reports*

>30

c.1016dup

p.Val340Glyfs*6

fs

471

111

4.2

58%

Norwegian, Danish and Swedish

 

c.1556del

p.Lys519Argfs*13

fs

399

95

 

1413/2430

Norwegian

 

c.3228_3229del

p.Gly1077Alafs*8

fs

214

45

  

Italian, Norwegian

 

c.697_698del

p.Val233Asnfs*4

fs

182

44

 

51%

Norwegian

 

c.3178G > T

p.Glu1060*

stop

147

46

 

341/669

Norwegian

10–30

c.1A > G

p.Met1Val

start codon

69

21

3.5

19%

Norwegian

 

c.3048_3052dup

p.Asn1018Metfs

fs

44

16

 

455/2430

Swedish founder

 

c.5266dup

p.Gln1756Profs*74

fs

30

16

  

European, Russian

 

c.3084_3094del

p.Asn1029Argfs*5

fs

43

13

  

Norwegian

 

dup exon 13/c.(4185 + 1_41861)_(4357 + 1_4358–1)dup

p.?

rearr

41

11

 

19%

Norwegian and British

 

dup exon 22 /c.(5332 + 1_5333–1)_(5406 + 1_5407–1)del

p.?

rearr

29

11

 

128/669

Dutch

 

c.4745del

p.Asp1582Alafs*19

fs

78

10

  

Norwegian

 

c.2351_2357del

p.Ser784Trpfs*6

fs

54

10

  

Norwegian

 

del exon 8–13 / c.(441 + 1_442–1)_(4357 + 1_4358–1)del

p.?

rearr

37

10

  

British, European founder

 

c.3607C > T

p.Arg1203*

stop

30

10

  

Greek founder, Belgian, Korean recurrent

3–9

c.1072del

p.Leu358Cysfs*16

fs

22

8

3.2

13%

NF

 

c.68_69del

p.Glu23Valfs*17

fs

13

7

 

320/2430

Ashkenazi, Polish, Italian, Spanish

 

c.4065_4068del

p.Asn1355Lysfs*10

fs

12

7

  

British and German

 

c.5047G > T

p.Glu1683*

stop

39

6

  

NF

 

c.3319G > T

p.Glu1107*

stop

16

8

 

15%

Danish

 

c.5075-2A > C

p.?

splice var

39

5

 

101/669

Norwegian

 

c.2475delC

p.Asp825Glufs*21

fs

15

5

  

Swedish and Danish

 

c.3700_3704del

p.Val1234Glnfs*8

fs

7

5

  

Rec. Greek, Czech

 

c.3331_3334del

p.Gln1111Asnfs*5

fs

21

4

  

Hispanic, Portuguese founder

 

c.2591C > G

p.Ser864*

stop

16

4

  

NF

 

c.3966delA

p.Lys1322Asnfs*3

fs

15

4

  

NF

 

del exon 3–16/ c.(80 + 1_81–1)_(4986 + 1_4987–1)del

p.?

rearr

14

4

  

NF

 

c.130 T > A

p.Cys44Ser

missense

8

4

  

NF

 

c.1450G > T

p.Gly484*

stop

18

3

  

NF

 

c.5513 T > G

p.Val1838Gly

missense

13

3

  

NF

 

c.3756_3759del

p.Ser1253Argfs*10

fs

10

3

  

Recurrent Polish

 

c.5251C > T

p.Arg1751*

stop

10

3

  

Finnish

 

c.1687C > T

p.Gln563*

stop

6

3

  

European, Austrian, Slovanian founder

 

c.3710del

p.Ile1237Asnfs*27

fs

6

3

  

Danish, Swedish, rec. Polish

 

c.4035del

p.Glu1346Lysfs*20

fs

6

3

  

Slovenian, Polish, Latvian, Lithuanian

 

c.5309G > T

p.Gly1770Val

missense

6

3

  

Moroccan founder

 

c.181 T > G

p.Cys61Gly

missense

5

3

  

Central and eastern European founder

 

c.843_846del

p.Ser282Tyrfs*15

fs

3

3

  

NF

1–2

c.5511G > A

p.Trp1837*

stop

18

2

2.4

10%

NF

 

c.2869C > T

p.Gln957*

stop

14

2

 

242/2430

NF (?)

 

c.66dupA

p.Glu23Argfs*18

fs

12

2

  

NF

 

c.1058G > A

p.Trp353*

stop

10

2

 

15%

NF

 

c.5407-25 T > A

p.?

splice var

9

2

 

99/669

NF

 

c.1292dup

p.Leu431Phefs*5

fs

8

2

  

NF

 

c.794_795del

p.Ser265Cysfs*21

fs

8

2

  

NF

 

c.2558ins356

p.?

stop

7

2

  

NPR

 

c.5503C > T

p.Arg1835*

stop

6

2

  

Pakistani founder

 

c.2681_2682del

p.Lys894Thrfs*8

fs

5

2

  

Scottish

 

c.2989_2990dup

p.Asn997Lysfs*4

fs

5

2

  

NF

 

c.4689C > G

p.Tyr1563*

stop

5

2

  

NF

 

c.5153G > C

p.Trp1718Ser

missense

5

2

  

NF

 

del exon 1–3 / c.(?_1–1)_(134 + 1_135–1)del

p.?

rearr

4

2

  

Norwegian founder

 

c.1287del

p.Ile429Metfs*12

fs

2

2

  

NPR

 

c.3937C > T

p.Gln1313*

stop

1

1

  

NF

 

c.5095C > T

p.Arg1699Trp

missense

1

2

  

NF

 

c.3874del

p.Ser1292Leufs*15

fs

7

1

  

Danish founder

 

del exon 1–13/ c.(?_1–1)_(4357 + 1_4358–1)del

p.?

rearr

5

1

  

Norwegian founder

 

c.5534del

p.Glu1346Lysfs*20

fs

5

1

  

NPR

 

c.1793 T > G

p.Leu598*

stop

4

1

  

NF

 

c.115 T > G

p.Cys39Gly

missense

2

1

  

Greenlandic/Danish founder

 

del exon 5–7/c.(134 + 1_135–1)_(441 + 1_442–1)del

p.?

rearr

3

1

  

NF

 

del exon 8 c.(441 + 1_442–1)_(547 + 1_548–1)del

p.?

rearr

3

1

  

European founder

 

c.848 T > A

p.Leu283*

stop

3

1

 

NF

 
 

c.929del

p.Gln310Argfs*4

fs

3

1

  

NF

 

c.1434_1435del

p.Glu479Lysfs*10

fs

3

1

  

NF

 

c.2257dup

p.Ser753Lysfs*9

fs

3

1

  

NPR

 

c.3770_3771del

p.Glu1257Glyfs*9

fs

3

1

  

Spanish founder

 

c.4612C > T

p.Gln1538*

stop

3

1

  

NF

 

c.457_458ins21

p.?

stop

6

2

  

NPR

 

del exon 18–24/c.(5074 + 1_5075–1)_(5592 + 1_?-1)del

p.?

rearr

2

1

  

NPR

 

c.1059G > A

p.Trp353*

stop

2

1

  

NF

 

c.1360_1361del

p.Ser454*

stop

2

1

  

Italian

 

c.1695dup

p.Lys566Glufs*4

fs

1

1

  

NF

 

c.65 T > C

p.Leu22Ser

missense

2

1

  

NF

 

c.2138C > G

p.Ser713*

stop

1

1

  

NF

 

c.2389G > T

p.Glu797*

stop

2

1

  

NF

 

c.2438dup

p.Leu814Thrfs*9

fs

2

1

  

NF

 

c.3477_3479delinsC

p.Lys1160Glyfs*4

fs

2

1

  

NF

 

c.3689 T > G

p.Leu1230*

stop

2

1

  

NF

 

c.3835del

p.Ala1279Hisfs*28

stop

2

1

  

NF

 

c.4186C > T

p.Gln1396*

stop

2

1

  

NF

 

c.4484G > A

p.Ala1453Glyfs*10

splice var.

2

1

  

NF

 

c.386del

p.Gly129Alafs*34

fs

2

1

  

NPR

 

c.4932_4933dup

p.Arg1645Lysfs*14

fs

2

1

  

NF

 

c.4972delA

p.Thr1658Profs*19

fs

2

1

  

NPR

 

c.4986 + 1G > T

p.?

splice var

2

1

  

NF

 

c.5407-2A > G

p.?

splice var

2

1

  

NF

 

c.445G > T

p.Glu149*

stop

2

1

  

NPR

 

c.510del

p.Ile171Tyrfs*63

fs

2

1

  

NPR

 

del exon 11/c.(670 + 1_671–1)_(4096 + 1_4097–1)del

p.?

rearr

1

1

  

NPR

 

del exon 16/c.(4675 + 1_4676–1)_(4986 + 1_4987–1)del

p.?

rearr

1

1

  

NF

 

del exon 20–24/c.(5193 + 1_5194–1)_(5592 + 1_?-1)del

p.?

rearr

1

1

  

NF

 

c.1175_1214del

p.Leu392Glnfs*5

fs

1

1

  

NF

 

c.1674dup

p.Gly559Argfs*2

fs

1

1

  

NPR

 

c.1823_1826del

p.Lys608Ilefs*3

fs

1

1

  

NF

 

c.1961dup

p.Tyr655Valfs*18

fs

1

1

  

NF

 

c.2019del

p.Glu673Aspfs*28

fs

1

1

  

NF

 

c.2185G > T

p.Glu729*

stop

1

1

  

NF

 

c.2293G > T

p.Glu765*

stop

1

1

  

NF

 

c.140G > T

p.Cys47Phe

missense

1

1

  

NF

 

c.2727_2730del

p.Asn909Lysfs*90

fs

1

1

  

NF

 

c.2864C > A

p.Ser955*

stop

1

1

  

Hispanic, Californian

 

c.188 T > A

p.Leu63*

stop

1

1

  

Japanese

 

c.2981_2982del

p.Cys994*

stop

1

1

  

NF

 

c.3005del

p.Asn1002Thrfs*22

fs

1

1

  

NF

 

c.213-5 T > A

p.?

splice var

1

1

  

NF

 

c.3400G > T

p.Glu1134*

stop

1

1

  

NF

 

c.241C > T

p.Gln81*

stop

1

1

  

NF

 

c.3544C > T

p.Gln1182*

stop

1

1

  

NF

 

c.3644_3648del

p.(Asn1215Ilefs*2)

fs

1

1

  

NPR

 

c.3813dupT

p.(Asn1272*)

stop

1

1

  

NF

 

c.3817C > T

p.Gln1273*

stop

1

1

  

NF

 

c.4146_4155dup

p.Ser1386Leufs*8

fs

1

1

  

NF

 

c.5074 + 2 T > C

p.?

splice var.

1

1

  

NF

 

c.5030_5033del

p.Thr1677Ilefs*2

fs

1

1

  

French

 

c.5212G > A

p.Gly1738Arg

missense

1

1

  

Greek

 

c.5193 + 2del

p.?

splice var

1

1

  

NF

 

c.5434C > G

p.Gly1803Glnfs*11

splice var.

1

1

  

NF

 

c.514C > T

p.Gln172*

stop

1

1

  

NF

 

c.5213G > A

p.Gly1738Glu

missense

1

1

  

Danish, Iranian

  1. *Founders are reported with indication of origin, NF not founder through search, NPR not previously reported
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287