Skip to main content

Table 2 Specific rare and novel CNVs detected in embryonal carcinoma (Twin-1t) and seminoma (Twin-2t)

From: Genomic screening of testicular germ cell tumors from monozygotic twins

Tumor Sample

Cytoband

Start (pb)

Stop (pb)

Size (pb)

Event

CNV Classification a

Genes b

Twin-1 t

16p11.2-p11.1

34.059.589

34.847.384

787796

Gain

R

NI

Twin-2 t

1p31.1

77.762.182

78.226.565

464384

Gain

N

NI

 

1p22.1

93.075.850

93.586.348

510499

Gain

N

NI

 

2p23.3

27.431.951

27.496.511

64561

Gain

N

EIF2B4

 

2q33.1

201.865.021

202.014.428

149408

Gain

N

NI

 

3q13.13

110.529.591

110.874.657

345067

Loss

N

NI

 

3q13.33

120.713.729

120.813.244

99516

Gain

N

NI

 

6p21.1

42.257.603

42.545.298

287696

Gain

N

GUCA1A,GUCA1B, MRPS10 and TRERF1

 

8p11.23

39.003.502

39.157.973

154472

Loss

N

ADAM9 and ADAM32

 

10q24.1-q24.2

99.386.286

99.516.551

130266

Gain

N

PI4K2A, AVPI1, MARVELD1, ZFYVE27 and SFRP5

 

12q13.3-q14.1

56.296.387

56.308.803

12417

Loss

N

NI

 

12q24.31

119.381.319

119.652.493

271175

Gain

N

NI

 

14q11.2

20.550.697

20.622.417

71721

Loss

N

NI

 

14q23.1

58.887.110

59.149.379

262270

Loss

N

NI

 

15q25.3-q26.1

86.730.625

86.986.408

255784

Gain

N

MRPL46, MRPS11, DET1, MIR1179, MIR7-2, MIR3529, AEN and ISG20

 

17p11.2

19.968.313

20.108.133

139821

Loss

N

NI

 

17p13.1

7.423.749

7.459.204

35456

Gain

N

NI

 

19q13.43

62.712.083

62.882.866

170784

Gain

N

ZNF773, ZNF549, ZNF550, ZNF416, ZIK1, ZNF530, ZNF134, ZNF211 and ZSCAN4

 

20q11.21

29.352.138

29.447.677

95540

Gain

N

DEFB116, DEFB118 and DEFB119

 

Xp22.12-p22.11

20.043.034

21.803.101

1760068

Gain

R

SCARNA9L, SMPX, YY2 and MBTPS2

  1. Legend: CNV – copy number variation; Twin-1 t – embryonal carcinoma; Twin-2 t – seminoma. Rare – R; Novel – N; No identified – NI. a - CNV classification based on the Database of Genomic Variants and in the Brazilian population reference database. b- Genes mapped in regions described as rare or novel CNV.