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Table 2 Inconsistent germline and somatic BRCA1/2 variations

From: Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer

 

Germline BRCA mutation

Somatic BRCA mutation

 

AA variation

Sequence variation

Mutation type

 

AA variation

Sequence variation

Mutation type

VAF

Replace #1

BRCA2

p.S93Ifs*8

c.276dupA

Frameshift

BRCA1

p.K654Sfs*47

c.1961delA

Frameshift

2.11

BRCA2

p.I605Yfs*9

c.1806delA

Frameshift

24.65

Replace #2

BRCA1

p.W1815*

c.5445G > A

Nonsense

BRCA1

p.W1836*

c.5508G > A

Nonsense

54.33

Reversion #1

BRCA1

p.S308*fs

c.922_924delAGCinsT

Frameshift

–

 

Reversion #2

BRCA1

 

c.5467 + 1G > A

Intervening sequence

–

 

Reversion #3

BRCA1

 

c.212 + 1G > T

Intervening sequence

–

 

Acquired #1

–

BRCA2

p.E1299V

c.3896A > T

Missense

5.54

Acquired #2

–

BRCA1

p.5308Tfs*6

c.923delG

Frameshift

54.73

Acquired #3

–

BRCA1

p.F1177Cfs*7

c.3530_3540del

Frameshift

27.84

Acquired #4

–

BRCA1

p.K1183R

c.3548A > G

Missense

23.74

Acquired #5

–

BRCA1

p.K654Sfs’47

c.1961delA

Frameshift

2.11

BRCA2

p.I605Yfs’9

c.1806delA

Frameshift

24.77

Acquired #6

–

BRCA2

p.I605Nfs’11

c.1805_1805insA

Frameshift

2.34

Acquired #7

–

BRCA1

p.T499Kfs*4

c.1496delC

Frameshift

40.87

  1. AA amino acid, VAF variant allele frequency, VOUS variants of uncertain significance
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BMC Cancer

ISSN: 1471-2407

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