Table 1.

Genes conferring susceptibility to naevi and/or melanoma.

Gene	Nevus count GWAS p-value	Melanoma GWAS p-value
Low to medium penetrance (38, 43)
ASIP	0.215	8.36 × 10−25
ATM	0.006	1.38 × 10−12
CASP8	0.134	8.88 × 10−09
CDKAL1	0.351	3.27 × 10−08
CYP1B1	5.70 × 10−07	2.40 × 10−05
DOCK8	1.95 × 10−08	5.52 × 10−06
FAM208B	1.95 × 10−08	5.52 × 10−06
FMN1	6.52 × 10−06	1.43 × 10−06
FTO	0.014	1.81 × 10−09
GPRC5A	5.72 × 10−06	4.08 × 10−07
HDAC4	7.59 × 10−07	2.16 × 10−04
IRF4	4.21 × 10−67	8.22 × 10−01
KITLG	8.40 × 10−09	6.61 × 10−01
MC1R	0.067	6.24 × 10−92
MITF (2)	5 × 10−4	2 × 10−18
MTAP rs869329	2.12 × 10−37	1.14 × 10−31
MTAP rs11532907	2.30 × 10−17	1.42 × 10−19
MX2	0.063	3.28 × 10−15
NFIC	2.22 × 10−04	1.02 × 10−05
OCA2	0.935	3.11 × 10−09
PARP1	0.004	3.59 × 10−13
PLA2G6 rs132985	3.06 × 10−18	4.76 × 10−12
PLA2G6 rs2005974	3.31 × 10−14	7.83 × 10−11
PPARGC1B	4.71 × 10−07	4.58 × 10−04
SETDB1	0.007	3.88 × 10−12
SLC45A2	0.755	2.30 × 10−12
SYNE2	1.95 × 10−04	1.74 × 10−05
TCONS_12_00025686	0.002	1.84 × 10−09
TERC	5.73 × 10−06	1.64 × 10−05
TERT	0.003	1.66 × 10–17
TPCN2/CCND1	0.209	1.01 × 10−10
TTC7B	0.415	4.63 × 10−14
TYR	0.605	1.01 × 10−26
9q31 region	1.35 × 10−04	2.30 × 10−08
High-penetrance familial melanoma (44)
ACD		+
ACH		+
BAP1		+
CDK4		+
CDKN2A	+	+
EBF3*		+
GOLM1*		+
NEK11*		+
POLE*		+
POT1		+
TERF2IP		+
TERT	+	+

^*Proposed high-penetrance melanoma genes; further research to confirm these is ongoing.

⁺Indicates association.