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Table 1 Polymorphisms found in the BRCA1 and BRCA2 genes by exon resequencing

From: BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

Gene

Nucleotide change

Effect on protein

NCBI SNP

Clinical significance1

Case n=30

BRCA1

c.2311T>C

L771L

rs16940

No

3

c.3113A>G

E1038G

rs16941

No

2

c.4308T>C

S1436S

rs1060915

No

4

c.4675+1G>A

INV15+1

rs80358044

Yes

1

c.4837A>G

S1613G

rs1799966

No

1

BRCA2

c.-41A>G

5'UTL

-

Unkown

1

c.-26G>A

5'UTL

rs1799943

No

20

c.658delGT

V220 (223stop)

rs80359604

Yes

1

c.1114A>C

N372H

rs144848

No

1

c.3396A>G

K1132K

rs1801406

No

10

c.3807T>C

V1269V

rs543304

No

2

c.4258G>T

D1420Y

rs28897727

No

2

c.4563A>G

L1521L

rs206075

No

2

c.5244delC

S1748 (1748stop)

-

Yes

1

c.5744C>T

T1915M

rs4987117

minor

2

c.7242A>G

S2414S

rs1799955

No

4

 

c.7316delG

G2439 (2468stop)

-

Yes

1

  1. 1 As clinically significant were considered nonsense, frameshift and splice site mutations, as well as missense ones which are considered as such in Breast Cancer Information Core database [16].