Table 1 BRCA1 and BRCA2 deleterious germline mutations in 133 Chinese women with familial breast/ovarian cancer

BRCA1

1

11

c.1465G > T

1584G > T

E489X

Zhi et al. [7]

1

11

c.1945G > T

2064G > T

E649X

BIC

1

11

c.3295delC

3414delC

P1099LfsX10

Novel

2

11

c.3780_3781delAG

3899_3900delAG

L1260FfsX6

Novel

1

11

c.4063_4066delAATC

4182_4185delAATC

N1355KfsX10

Novel

1

11

c.4065_4068delTCAA

4184_4187delTCAA

N1355KfsX10

BIC

2

19

c.5154G > A

5273G > A

W1718X

BIC

1

19

c.5161C > T

5280C > T

Q1721X

Novel

1

19

c.5173insA

5292insA

E1725EfsX7

Novel

1

20

c.5251C > T

5370C > T

R1751X

BIC

1

Intron23

c.5467 + 1G > A

IVS23 + 1G > A

Splicing defect

BIC

2

Intron23

c.5468-1del8

5587-1del8

Splicing defect

Zhang et al. [11]

3

24

c.5470_5477del8

5589_5596del8

I1824DfsX3

BIC

BRCA2

1

Intron1

c.1-40delGA

IVS1-1deGA

Splicing defect

Novel

1

5

c.469_473delAAGTC

697_701delAAGTC

K157SfsX24

Novel

1

9

c.755_758delACAG

983_986delACAG

T251XfsX1

BIC

2

11

c.3109C > T

3337C > T

Q1037X

BIC

1

11

c.4487delC

4715delC

P1496QfsX8

Novel

1

11

c.5495delC

5723delC

S1832LfsX8

Novel

3

11

c.5682C > G

5910C > G

Y1894X

BIC

1

11

c.6141 T > A

6369 T > A

Y2047X

Novel

1

11

c.6359C > G

6587C > G

S2120X

Novel

1

15

c.7588C > T

7816C > T

Q2530X

Novel