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Table 3 BRCA1/BRCA2 truncating mutations, novel and non-truncating variants affect the gene products

From: BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

Exon

Codon

(HGVS) Protein level

(HGVS) DNA level

BIC DNA level

BIC Status

Carrier CODE

Index case Status (age)

Family history

Inclusion Criteria

Worldwide Occurrence

BRCA1

          

2

E23VfsX16

Stop cod39

c.66_67delAG

185delAG

D

AB54

Br(37)

Br

Ashk-EO-FH

Ashkenazi

      

AB60

Br(40)

Br

Ashk-EO-

 
      

AB77

Ov (44)

Br, Ov

FH Ashk-

 
      

AB68

Ov (44)

Br, Ov

FH Ashk-

 
      

AB76

Br (49)

Br

FH Ashk-

 
      

AB81

Br (52)

Br

FH Ashk-

 
      

AB87

Ov (60)

Br, Ov

FH Ashk-FH

 

2

E23KfsX18

Stop cod40

c.67insA

186insA

D

AB82

Br (34)

Br

EO-FH

NE/ME

5

C61G

p. Cys61Gly

c.181 T > G

300 T > C

D

AB75

Br (49)

Br

FH

E

5

R71G

p. Arg71Gly

c.211A > G

330A > G

D

AB64

Br (43)

Br

FH

E

7

E143X

p. Glu143Stop

c.427 G > T

546 G > T

D

AB46

Br (33)

Br, Ov, Pa, Pr

EO-FH

E

11

S267KfsX19

Stop cod285

c.797_798delTT

916delTT

D

AB36

Br-Ov (46)

Br

FH

C, L-A E, N-A

11

K501Kfs30

Stop cod530

c.1502_1505delAATT

1621delAATT

NR

AB20

Br (32)

No

EO

Argentina

11

R504VfsX28

Stop cod531

c.1510delC

1629delC

D

AB40

Br (30)

Br

EO-FH

E

11

E836GfsX2

Stop cod837

c.507_2508delAA

2626delAA

NR

AB67

Br (50)

Br

FH

Argentina

11

S896Vfs104

Stop cod999

c.2686delA

2805delA

NR

AB85

Br (55)

Br

FH

Argentina

11

Q910X

p. Gln910Stop

c.2728 C > T

2847C > T

NR

AB84

Ov (55)

Br, Ov, Co

FH

Argentina

11

R1203X

p. Arg1203Stop

c.3607C > T

3726C > T

D

AB8

Ov (25)

No

EO

C, L-A

11

E1210RfsX8

Stop cod1218

c.3627insA

3746insA

D

AB21

Br-Ov (33)

No

EO

C, L-A, As

11

S1253X

p. Ser1253Stop

c.3758_3759delCT

3877delCT

NR

AB17

Br (31)

No

EO

Argentina

17

T1677IfsX2

Stop cod1678

c.5030_5033delCTAA

5149delCTAA

D

AB79

Br (51)*

Br, Ov, Pa, Pr

FH

E

20

S1755PfsX75

Stop cod1829

c.5263insC

5382insC

D

AB55

Br (49)

Br

Ashk-FH Ashk-EO-FH

E, Ashkenazi

      

AB97

Br (38)

Br

  

BRCA2

          

9

-

Splice defect

c.793 + 1delG

IVS9 + 1delG

NR

AB99

Br (31)

Br

EO-FH

Argentina

11

N955KfsX5

Stop cod959

c.2808_2811delACAA

3036delACAA

D

AB78

Br (50)

Br

FH

E, L-A

11

S1982RfsX22

Stop cod2003

c.5946delT

6174delT

D

AB43

Br (32)

Br-male

Ashk-EO-FH

Ashkenazi

      

AB47

Br (33)

Br-male

Ashk-EO-

 
      

AB69

Br/Ov (45)

Br-male

FH Ashk-FH

 
      

AB57

Br (39)

Br, Pa,

Ashk-EO-

 
      

AB71

Br (46)

Ov Pr,

FH Ashk-

 
      

AB74

Br (48)

Br

FH Ashk-

 
      

AB95

Br (36)

Br

FH

Ashk-

 
      

AB96

Br (60)

Br

EO-FH Ashk-FH

 

11

K1213X

p. Lys1213Stop

c.6037A > T

6265A > T

D

AB34

Br (40)

No

EO

E

11

S1882X

p. Ser1882Stop

c.5644C > G

5872C > G

D

AB117

Br (50)

Br, Pr

FH

E

11

Y1894X

Stop cod1894

c.5909insA

6137insA

D

AB92

Br (31)

Br

EO-FH

E

14

E2369EfsX23

Stop cod2391

c.7105insA

7333insA

NR

AB98

Br (35)

Br

EO-FH

Argentina

18

D2723H

p. Asp2723His

c.8169 G > C

8397 G > C

CU

AB31

Ov (38)

No

EO

E

  1. D, deleterious; CU, clinically unknown importance; NR, Not Reported in Breast Information Core database(BIC)http://research.nhgri.nih.gov/bic/
  2. Global, as defined in BIC or when reported in at least 3 continents ethnic groups in HapMap; E, European; As, Asian; A-A African-American; L-A, Latin American; N-A, Native-American; A-C America-Caucasian; NE/ME, Near Eastern/Middle Eastern;
  3. The DNA sequence numbering of BRCA1and BRCA2 sequence variants is based on recomendations of the Human Genome Variation Society (HGVS, translation initiation codon ATG = 1) BRCA1:genomic sequence:L78833; RNA sequence: U14680; BRCA2 genomic sequence: NW_001838072; RNA sequence: NM_001838072
  4. In bold, novel mutations not previously reported.
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