Table 2 The summary of the pathogenic and likely pathogenic variants detected in the 114 patients with primary cutaneous melanoma.

From: A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants

Gene†

Variant

Case number‡ (freq.)

Gene†

Variant

Case number‡

(freq.)

Gene†

Variant

Case number‡ (freq.)

BRAF

G466E

1 (0.9%)

CCND2

p.W139X

1 (0.9%)

NBN

p.W2X

1 (0.9%)

(total 62)

G469E

1 (0.9%)

(total 1)

  

(total 4)

p.E309K

1 (0.9%)

 

L597S

1 (0.9%)

CDH1

p.F767S

1 (0.9%)

 

p.E736X

1 (0.9%)

 

V600E

46 (40%)

(total 2)

p.G877R

1 (0.9%)

 

p.D742H

1 (0.9%)

 

V600K

10 (8.7%)

CDK4

p.R24C

1 (0.9%)

 

p.K219delinsNLfs

1 (0.9%)

 

V600R

1 (0.9%)

(total 2)

p.R24H

1 (0.9%)

PARD3

p.P170S

1 (0.9%)

 

K601E

2 (1.8%)

CYP19A1

p.R159C

1 (0.9%)

(total 7)

p.S292T

3 (2.6%)

NRAS

G13C

1 (0.9%)

(total 3)

p.E335K

1 (0.9%)

 

p.R546C

1 (0.9%)

(total 35)

Q61R

16 (14%)

 

p.L451F

1 (0.9%)

 

p.G1326R

1 (0.9%)

 

Q61K

15 (13.2%)

ERCC3

p.P149S

1 (0.9%)

 

p.X1357SfsX4

1 (0.9%)

 

Q61L

2 (1.8%)

(total 2)

p.G402C

1 (0.9%)

PDGFRA

p.W586X

1 (0.9%)

 

Q61H

1 (0.9%)

ESR1

p.R157X

1 (0.9%)

(total 1)

  

AKT3

p.Y269S

1 (0.9%)

(total 4)

p.G415E

1 (0.9%)

PIK3CA

p.A615V

1 (0.9%)

(total 2)

p.R270C

1 (0.9%)

 

p.E397Sfs

1 (0.9%)

(total 2)

p.H1048R

1 (0.9%)

 

c.1355–1G>A, spl.

1 (0.9%)

 

p.H488Y

1 (0.9%)

PPM1D

p.Q524X

1 (0.9%)

ARID1A

p.Q583X

1 (0.9%)

ERS2

p.D194N

1 (0.9%)

(total 2)

c.-232–2G>T, spl.

1 (0.9%)

(total 6)

p.Q1188X

1 (0.9%)

(total 3)

p.R221G

1 (0.9%)

PPP6C

p.H151Y

1 (0.9%)

 

p.K1230Mfs

1 (0.9%)

 

p.T299I

1 (0.9%)

(total 4)

p.R301C

3 (2.6%)

 

p.P1618S

1 (0.9%)

F11R

p.G105E

1 (0.9%)

PTEN

p.K6X

1 (0.9%)

 

p.R1721X

1 (0.9%)

(total 2)

p.R286Q

1 (0.9%)

(total 3)

p.G209X

1 (0.9%)

 

p.Q1894X

1 (0.9%)

HNF1B

p.S242F

1 (0.9%)

 

p.Y29delinsX

1 (0.9%)

 

p.V2244G

1 (0.9%)

(total 2)

c.1340–1G>A, spl.

1 (0.9%)

 

c.1026 + 2T>G, spl.

1 (0.9%)

ARID2

p.R314C

1 (0.9%)

IDH1

p.R82K

1 (0.9%)

RB1

p.R251Q

1 (0.9%)

(total 8)

p.Q397X

1 (0.9%)

(total 5)

p.R132C

2 (1.8%)

(total 2)

c.2106+1G>A, spl.

1 (0.9%)

 

p.Q490X

1 (0.9%)

 

p.Y183C

2 (1.8%)

SF3B1

p.P409S

1 (0.9%)

 

p.E533X

1 (0.9%)

KDR

p.W485X

1 (0.9%)

(total 5)

p.R568C

1 (0.9%)

 

p.R542X

1 (0.9%)

(total 7)

p.W610X

1 (0.9%)

 

p.R625H

1 (0.9%)

 

p.Q782X

1 (0.9%)

 

p.R1032Q

2 (1.8%)

 

p.K666M

1 (0.9%)

 

p.Q1313X

1 (0.9%)

 

p.W1096X

1 (0.9%)

 

p.E902K

1 (0.9%)

 

p.E258Mfs34X

1 (0.9%)

 

p.L1156S

1 (0.9%)

 

p.H1210Y

1 (0.9%)

 

c.5061 + 2T>A, spl.

1 (0.9%)

 

p.D1241N

1 (0.9%)

SMARCB1

p.P48L

1 (0.9%)

 

c.1023 + 5G>A, spl.

1 (0.9%)

KIT

p.W557R

1 (0.9%)

(total 3)

p.A144V

1 (0.9%)

 

c.187–1G>A, spl.

1 (0.9%)

(total 1)

   

p.S274F

1 (0.9%)

ATM

p.Q1003X

1 (0.9%)

KRAS

p.G12C

1 (0.9%)

SNAI2

p.L256V

1 (0.9%)

(total 7)

p.R1730X

1 (0.9%)

(total 1)

  

(total 1)

  
 

p.S1905delinsITfs

1 (0.9%)

MAP2K1

p.C121G

1 (0.9%)

TJP1

p.P1257S

1 (0.9%)

 

p.E2014K

1 (0.9%)

(total 8)

p.P124S

5 (4.3%)

(total 4)

p.R1356X

1 (0.9%)

 

p.G2023R

2 (1.8%)

 

p.P124R

1 (0.9%)

 

p.S1468F

2 (1.8%)

 

p.L2447S

1 (0.9%)

 

p.S228F

1 (0.9%)

TP53

p.L194P

1 (0.9%)

 

p.T2743M

1 (0.9%)

MET

p.Y126X

1 (0.9%)

(total 8)

p.R196X

1 (0.9%)

BRCA1

p.Q94X

1 (0.9%)

(total 6)

p.P657S

1 (0.9%)

 

p.R273P

1 (0.9%)

(total 1)

   

p.P664A

2 (1.8%)

 

p.G245D

1 (0.9%)

BRCA2

p.H2417Qfs

1 (0.9%)

 

p.G896E

1 (0.9%)

 

p.R280K

1 (0.9%)

(total 5)

p.P2532L

1 (0.9%)

 

p.T1010I

1 (0.9%)

 

c.75–1G>T, spl.

1 (0.9%)

 

p.S2670L

1 (0.9%)

MLH1

p.P309A

1 (0.9%)

 

c.782+1G>C, spl.

1 (0.9%)

 

p.A2730V

1 (0.9%)

(total 1)

   

c.919+1G>A, spl.

1 (0.9%)

 

p.S2807L

1 (0.9%)

MLH3

p.C320G

1 (0.9%)

ZEB1

p.D1024N

1 (0.9%)

BRIP1

p.R162X

1 (0.9%)

(total 1)

  

(total 1)

  

(total 3)

p.S624L

1 (0.9%)

MSH6

p.H437Y

1 (0.9%)

ZEB2

p.P425L

1 (0.9%)

 

p.R814C

1 (0.9%)

(total 2)

c.3647–1G>A, spl.

1 (0.9%)

(total 5)

p.V463A

1 (0.9%)

       

p.P506del

1 (0.9%)

       

p.V533A

1 (0.9%)

       

p.G1068D

1 (0.9%)

  1. †Total count of patients with at least one mutation in the respective gene, ‡frequencies of the variant are related to the total number of patients; spl. – splice, fs – frameshift; novel variants are underlined.
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