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Table 3 Interactions of the RAS-MAPK pathway with NB associated genes

From: A review of the biological and clinical implications of RAS-MAPK pathway alterations in neuroblastoma

 

Candidate genes

Mutation

Location

RAS-MAPK involvement

References

Low penetrance genes

CASC14/NBAT-1

Loss of function

6p22

MAPK1/3 inhibition

[1, 2]

CASC15

 

6p22

  

BARD1

Gain of function

2q35

MAPK1a

[3–6]

LMO1

Gain of function

11p15.4

MAPK1/3 activation

[7, 8]

HSD17B12

 

11p11.2

  

DUSP12

NA

1q23.3

MAPK1, HRAS inhibition

[9–12]

LIN28B

Gain of function

6q16

MAPK1/3 activation

[13, 14]

HACE1

Loss of function

6q16

MAPK1/3 inhibition

[13, 15, 16]

SPAG16

 

2q34

  

NEFL

 

8p21

  

MLF1/RSRC1

NA

3q25

ARAFa

[17]

CPZ

 

4p16

  

CDKN1B

Inhibited by GRB2 through p27Kip1

12p13.1

MAPK1

[16, 18–22]

GRB2

SLC16A1

NA

1p13.2

KRASa

[23–27]

NRASa

HRASa

MSX1

Gain of function

4p16.2

ARAF activation

[28, 29]

MMP20

NA

11q22.2

Activation of pathway

[30]

KIF15

NA

3p21.31

Activation of pathway

[31–33]

High penetrance genes

CHEK2

Loss of function

22q12.1

MAPK1/3 inhibition

[5, 34, 35]

AXIN2

 

17q24.1

  

BRCA2

Loss of function

13q13.1

GRB2

[36–39]

SDHB

 

1p36.13

  

SMARCA4

Loss of function

19p13.2

NF1a

[40–42]

MAPK1a

LZTR1

Loss of function

22q11.21

NF1

[23, 25, 26, 43, 44]

NRAS inhibition

BRCA1

Loss of function

17q21.31

NF1

[45–48]

MAPK3

MAPK1

NBPF23

 

1q21.1

  

SEZ6L2/PRRT2

 

16p11.2

  

APC

Loss of function

5q22.2

MAP2K1 inhibition

[39, 49]

TP53

Loss of function

17p13.1

MAPK1

[50–83]

HRAS

GRB2

KRAS

BRAF

SHC1

PTPN11

MAP2K1

MAP2K2]

ARAF

  1. For references 1 to 83 in this table, please see Supplementary Material list 1
  2. NA Information not available
  3. aPutative interaction with RAS-MAPK pathway modeled by IPA