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Table 1 Gene variants in metastatic tissues of the case from our center

From: Distant metastasis without regional progression in non-muscle invasive bladder cancer: case report and pooled analysis of literature

Gene

Variant

Amino acid change

Abundance/copy

Variant type

CHEK2

c.472delA

p.I158fs

Heterozygous

Frameshift (germline)

GATA1

c.907C>G

p.Q303E

79.40%

Missense

TERT

c.-124C>T

–

71.00%

Promoter mutation

STAG2

c.1408G>T

p.E470X

65.30%

Nonsense

KDM6A

c.3361_3384delinsT

p.H1121fs

60.00%

Frameshift

ERCC2

c.713A>G

p.N238S

59.40%

Missense

ARID1A

c.2183_2208del26

p.P728fs

53.30%

Frameshift

PIK3CA

c.1637A>C

p.Q546P

30.30%

Missense

CDH1

c.2222_2250del29

p.L741fs

22.90%

Frameshift

INHBA

c.362C>T

p.S121L

49.90%

Missense

SF3B1

c.961G>T

p.D321Y

49.50%

Missense

SPEN

c.1604G>A

p.R535Q

47.90%

Missense

NOTCH3

c.539C>T

p.S180F

47.70%

Missense

PCBP1

c.910G>A

p.E304K

42.60%

Missense

FAT4

c.760C>T

p.H254Y

39.00%

Missense

IRS2

c.379G>A

p.E127K

35.70%

Missense

IPO7

c.1957G>A

p.E653K

33.60%

Missense

ACVR2A

c.821C>T

p.S274L

32.60%

Missense

CDH1

c.1613A>G

p.D538G

32.20%

Missense

CDK12

c.2629G>A

p.D877N

32.20%

Missense

TBX3

c.1285G>A

p.D429N

26.60%

Missense

ERCC3

c.1274G>A

p.R425Q

26.30%

Missense

SF3B1

c.2704G>A

p.E902K

26.00%

Missense

VTCN1

c.458C>G

p.P153R

25.50%

Missense

KIF5B

c.2208A>C

p.Q736H

25.00%

Missense

NOTCH3

c.1636G>T

p.V546L

24.90%

Missense

TXNDC8

c.109A>G

p.R37G

24.00%

Missense

MALT1

c.955G>A

p.E319K

23.90%

Missense

BICC1

c.2698G>A

p.D900N

23.30%

Missense

MYCL

c.694C>T

p.H232Y

23.20%

Missense

ZNF521

c.680A>G

p.N227S

23.10%

Missense

PTPRK

c.1603G>C

p.D535H

21.90%

Missense

TACC3

c.772G>A

p.E258K

21.00%

Missense

PREX2

c.3079C>T

p.Q1027X

19.00%

Nonsense

MUC17

c.6295G>A

p.E2099K

16.70%

Missense

KMT2C

c.871C>G

p.L291V

14.50%

Missense

DDX5

c.907G>A

p.G303S

14.00%

Missense

INHBA

c.485C>T

p.P162L

13.30%

Missense

AR

c.179A>T

p.Q60L

1.80%

Missense

CDK12

c.3494C>T

p.S1165F

1.70%

Missense

ATRX

c.3875C>T

p.S1292L

1.30%

Missense

FGFR3

FGFR3-TACC3

–

9.02%

Gene fusion

EGFR

–

–

1.72

Amplification

MYCN

–

–

1.61

Amplification

AR

–

–

1.56

Amplification

FGFR1

–

–

1.55

Amplification

CDKN2A

–

–

0.30

Deletion

CDKN2B

–

–

0.30

Deletion