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Table 2 Spectrum of frame-shift and nonsense BRCA2 germline mutations detected in Czech patients.

From: Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

BRCA2 exon

DNA level BIC traditional nomenclature

DNA level Systematic nomencl.

Protein level

No. of families

3

c.534dupA

c.306dupA

p.Leu103IlefsX10

1

5

c.690_691delAA

c.462_463del2

p.Asp156X

1

9

c.983_986del4

c.755_758del4

p.Asp252ValfsX24

1

10

c.1617_1618delAG

c.1389_1390del2

p.Val464GlyfsX3

2

10

c.2024_2028del5

c.1796_1800del5

p.Phe559X

1

10

c.2041dupA (2041–2042insA)

c.1813dupA

p.Ile605AsnfsX11

2

11A

c.3036_3039del4

c.2808_2811del4

p.Ala938ProfsX21

5

11A

c.3304A>T

c.3076A>T

p.Lys1026X

1

11A

c.3337C>T

c.3109C>T

p.Gln1037X

1

11B

c.3972_3975del4

c.3744_3747del4

p.Ser1248ArgfsX10

1

11B

c.4075_4076delGT

c.3847_3848del2

p.Val1283LysfsX2

2

11C

c.5073_5074delCT

c.4845_4846del2

p.Leu1616LysfsX2

1

11C

c.5270_5271delGT

c.5042_c.5043del2

p.Val1681GlufsX7

1

11D

c.5441_5444del4

c.5213_5216del4

p.Thr1738IlefsX2

1

11D

c.5869_5872del4

c.5641_5644del4

p.Lys1881GlnfsX27

1

11D

c.5873C>A

c.5645C>A

p.Ser1882X

4

11D

c.5950_5951delCT

c.5722_5723del2

p.Leu1908ArgfsX2

1

11D

c.5991dupT

c.5763dupT

p.Ala1922CysfsX2

1

11D

c.6017delT

c.5789delT

p.Leu1930TyrfsX33

1

11E

c.6633_6637del5

c.6405_6409del5

p.Asn2135LysfsX3

1

11E

c.6677_6678delAA

c.6449_6450del2

p.Lys2150SerfsX25

3

11E

c.6696_6697delTC

c.6468_6469del2

p.Gln2157IlefsX18

1

11E

c.6866delC

c.6638delC

p.Ser2213X

2

11E

c.6982dupT (6982–6983insT)

c.6754dupT

p.Ser2252PhefsX9

1

14

c.7379_7380delAA

c.7151_7152del2

p.Gln2384ArgfsX7

1

15

c.7699C>T

c.7471C>T

p.Gln2491X

1

17

c.8141_8145del5 (8138_8142del5)

c.7913_7917del5

p.Phe2638fsX

15

18

c.8270_8271delCA

c.8042_8043del2

p.Thr2681CysfsX11

3

18

c.8397_8400dup4 (8400_8401ins4)

c.8169_8172dup4

p.Trp2725MetfsX3

1

19

c.8591G>A

c.8363G>A

p.Trp2788X

1

20

c.8765_8766delAG

c.8537_8538del2

p.Glu2846GlyfsX22

14

23

c.9325dupA

c.9097dupA

p.Thr3033AsnfsX11

1

25

c.9631delC

c.9403delC

p.Leu3135PhefsX28

4

25

c.9663_9664delGT

c.9435_9436del2

p.Ser3147CysfsX2

1

25

c.9691_9695del5ins8

c.9463_9467del5ins8

p.Phe3155GlufsX9

1

  1. BRCA2 reference sequence GenBank: U43746. Mutations marked in bold had not been submitted to the BIC database from any other population prior to November 2007 [21].