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Table 3 Missense and intervening sequence variants identified

From: Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

 

No.

Exon

Nucleotide change

AA change

Reported

Family (No.)

Mutation classification

Ethnicity

BRCA1

1

7

491 C>A

I124I

Novel

1

Benign?

Malay

 

2

9

690 G>A

V191I

Various

2

Benign?

Chinese

 

3

11

873 C>T

R252C

Novel

1

Deleterious?

Malay

 

4

11

914 T>C

S265S

Novel

1

Benign?

Chinese

 

5

11

1155 C>T

P346S

Asian

2

Benign?

Chinese

 

6

11

2405 A>T

R762S

Chinese [8]

1

Benign?

Malay

 

7

11

2685 T>C

Y856H

Chinese

6

Benign?

Chinese

 

8

11

2845 A>T

N909I

Chinese

1

Benign?

Chinese

 

9

11

2858 T>A

N913K

Novel

1

Benign?

Chinese

 

10

11

3050 A>G

P977P

Novel

1

Benign?

Chinese

 

11

11

3781 A>C

E1221A

Novel

1

Benign?

Chinese

 

12

11

3922 A>G

N1268S

Novel

1

Benign?

Malay

 

13

16

5011 G>A

S1631N

Novel

1

Benign?

Chinese

 

14

24

5623 G>A

R1835Q

Novel

1

Benign?

Malay

 

15

 

IVS 1-10 T>C

 

Various

1

Not clinically relevant [43]

Malay

 

16

 

IVS 12-10 G>A

 

Various

1

Deleterious?

Indian

BRCA2

1

3

443 A>G

N72S

Novel

1

Benign?

Chinese

 

2

5

668 A>G

Q147R

Asian, various

2

Benign?

1 Malay, 1 Chinese

 

3

10

1171 T>A

C315S

Asian

2

Benign?

Chinese

 

4

10

1503 A>G

E425E

Novel

1

Benign?

Chinese

 

5

10

1590 A>G

K454K

Novel

3

Benign?

Chinese

 

6

10

1828 G>A

E534K

Novel

1

Deleterious?

Malay

 

7

10

1872 G>A

Q548Q

Various

1

Benign?

Chinese

 

8

10

1875 G>A

K549K

Novel

1

Benign?

Chinese

 

9

10

2053 C>G

Q609E

Novel

1

Benign?

Malay

 

10

11

2906 A>G

Q893R

Novel

1

Benign?

Malay

 

11

11

3648 T>C

S1140S

Chinese [8]

1

Benign?

Chinese

 

12

11

3673 A>G

M1149V

Asian, various

3

Benign?

2 Malay, 1 Chinese

 

13

11

3903 A>G

T1225T

Novel

1

Benign?

Malay

 

14

11

4010 C>G

S1261C

Novel

1

Deleterious?

Malay

 

15

11

4806 A>G

T1526T

Novel

1

Benign?

Other

 

16

11

5395 A>C

T1723P

Novel

1

Benign?

Malay

 

17

11

5540 G>A

G1771D

Various

1

Not clinically relevant [BIC]

Malay

 

18

11

5863 G>A

E1879K

Caucasian

1

Benign?

Indian

 

19

11

6013 A>G

I1929V

Asian, various

1

Not clinically relevant [BIC]

Chinese

 

20

11

6550 C>T

R2108C

Various

3

Benign?

2 Malay, 1 Chinese

 

21

12

7157 C>A

T2310N

Novel

1

Deleterious?

Indian

 

22

17

8169 A>C

L2647L

Novel

1

Benign?

Malay

 

23

18

8415 G>T

K2729N

Asian, various

1

Not clinically relevant [44]

Chinese

 

24

19

8584 G>A

A2786T

Novel

1

Deleterious?

Chinese

 

25

21

8930 G>A

G2901D

Asian

1

Deleterious?

Chinese

 

26

23

9332 A>G

Y3035C

Caucasian

1

Deleterious?

Chinese

 

27

23

9334 C>G

Q3036E

Novel

1

Benign?

Chinese

 

28

27

10135 A>T

S3303C

Novel

1

Deleterious?

Other

 

29

27

10462 A>G

I3412V

Various

1

Not clinically relevant [45]

Chinese

 

30

 

IVS 2-7T>A

 

Caucasian

1

Deleterious?

Malay

 

31

 

IVS 7-10 insT

 

Novel

1

Deleterious?

Other

  1. Mutation classification was made based on published studies and analysis using PolyPhen. BIC, Breast Cancer Information Core.
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Breast Cancer Research

ISSN: 1465-542X

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