Table 1 Spectrum of frame-shift, missense and nonsense BRCA1 germline mutations detected in Czech patients.

2

c.174C>T

c.55C>T

p.Gln19X

1

2

c.187_188delAG (185delAG)

c.68_69del2

p.Glu23ValfsX17

7

2

c.190G>A

c.71G>A

p.Cys24Tyr

1

3

c.234T>C

c.115T>C

p.Cys39Arg

5

5

c.300T>G

c.181T>G

p.Cys61Gly

20

5

c.310G>A

c.191G>A

p.Cys64Tyr

1

11A

c.962_965del4

c.843_846del4

p.Ser282TyrfsX15

1

11A

c.1135dupA (1135insA)

c.1016dupA

p.Val340GlyfsX6

1

11A

c.1159delT

c.1040delT

p.Leu347ArgfsX27

1

11A

c.1187_1196del10

c.1068_1077del10

p.Gln356HisfsX15

1

11A

c.1323delG

c.1204delG

p.Glu402SerfsX8

1

11A

c.1522delA

c.1403delA

p.Lys468ArgfsX7

1

11A

c.1629delC

c.1510delC

p.Arg504ValfsX28

1

11A

c.1719C>T

c.1600C>T

p.Gln534X

3

11A

c.1806C>T

c.1687C>T

p.Gln563X

6

11B

c.2276dupA

c.2157dupA

p.Glu720ArgfsX6

2

11B

c.2312_2315del4

c. 2193_2196del4

p.Glu732ArgfsX3

1

11B

c.2382G>T

c.2263G>T

p.Glu755X

4

11B

c.2530_2531delAG

c.2411_2412del2

p.Gln804LeufsX5

3

11B

c.2607_2616dup10 (2616_2617ins10)

c.2488_2497dup10

p.Leu833X

4

11B

c.2881delA

c.2762delA

p.Gln921ArgfsX79

2

11B

c.3283delG

c.3164delG

p.Gly1055AlafsX4

1

11C

c.3740_3745del6insAA

c.3591_3626del6insAA

p.Leu1209Ser25

1

11C

c.3761_3762delGA

c.3642_3643del2

p.Asn1215fsX3

2

11C

c.3819_3823del5

c.3700_3704del5

p.Val1234GlnfsX8

29

11C

c.3875_3878del4

c.3756_3759del4

p.Ser1253ArgfsX10

6

11C

c.4171T>A

c.4052T>A

p.Leu1351X

1

12

c.4280_4281delTC

c.4161_4162del2

p.Gln1388GlufsX2

1

12

c.4284_4285delAG

c.4165_4166del2

p.Ser1389X

1

13

c.4458C>T

c.4339C>T

p.Gln1447X

1

20

c.5385dupC (5385insC; 5382insC)

c.5266dupC

p.Gln1756ProfsX74

75

22

c.5465G>A

c.5346G>A

p.Trp1782X

1

24

c.5629G>A

c.5510G>A

p.Trp1837X

1

24

c.5630G>A

c.5511G>A

p.Trp1837X

1