Table 2.
Melanoma susceptibility candidate genes
| Affected mechanism or pathology | Candidate genes | Reference |
|---|---|---|
| Pigmentation and tanning ability | ADAM15, AGR3, ASIP, CDKAL1, CYP1B1, DSTYK, FOXD3, GBA, GPR98, HDGFL1, IRF4, KIAA0930, MAFF, MCF2L, MED13L, MFSD12, MSC, MX2, OCA2, HERC2, PLA2G6, PPARGC1B, RP11-383H13.1, SOX6, TYR, TYRP1, ZBTB7B | [8,9,38,39,42] |
| Nevus count | AGR3, AKAP12, ASAP1, ATM, CASP8, CBWD1, CDH1, CYP1B1, DTNB, DTNBP1, FNM1, FTO, GDI2, HDAC4, HDGFL1, IRF4, IRX6, KIAA0930, KIAA1239, KLF4, MAFF, MFSD12, MKLN1, MSC, MTAP, OBFC1, PARP1, PLA2G6, PPARGC1B, RAPGEF1, RP11-383H13.1, SOX6, SYNE2, TFAP2B, TMEM38B (intergenic), TP53, ZFP36L1 | [9,38,39] |
| Dysplastic nevi | CDK6, XRCC1 | [64] |
| Epidermal development | CASP8 | [42] |
| DNA repair | ATM, ERCC2, ERCC4, PARP1 | [9,39,42,65] |
| Telomere length and maintenance | CLMPT1L, MPHOSPH6, OBFC1, RETL1, TERT, TINF2 | [38,42,66] |
| Cell-cycle progression | ATM, CCND1, CDK10 | [42] |
| Uveal melanoma | ATM, BRCA1, BRCA2, CHEK2, CLPTM1L, CTNNA1, MDB4, MLH1, MSH3, MSH6, PALB2, PMS1, SMARCE1, TDP1, TP53 | [26,67-71] |
| Single primary melanomas (SPM) | CYP1B1 | [72] |
| Multiple primary melanomas (MPM) | MGMT (protective), PIK3CA, SPI1 (protective) | [72-74] |
| Melanoma (not further specified) | ACD, ACTRT3, ADTRP, AHNAK, AKAP12, APOBEC3A/3B, ARHGEF40, ARNT/SETDB1, ATM, BACH2, BRCA2, BRD9, BRIP1, CASP8, CBWD1, CCND1, CDC91L1, CDH23, CDKAL1, CDKN2B, CTSK, DLG2, DNAJB4, DOT1L, EBF3, EZH2, FABP2, FAM160B2, FAT3, FTO, FZD4, GATA2, GNA11, GOLM1, HAL, HERC2, HLA-DQB2, IKZF2, IL1RN, IRF/EXOC2, LASS2ANXA9, LMO3, LMO7, MAP3K1, MARK3, MCL1, MET, MGMT, MSH2, MTAP, MTH7B, MX2, MXI1, NEK11, NGLY1, NIPAL3, OCA2, PAH, PALB2, PARP1, PIGU, PLA2G6, POLE, PPFIBP2, PRKDC, PROSER2, PRSS23, PTPN14, RAD50, RAD51B, RAPGEF5, RASA3, RB1, RP11-256L6.3, RREB1, SDHA, SLC24A5, SLCO4C1, STK11, TMEM135, TMEM136, TMEM163, TYR, TYRP1, WRN, XRCC3 | [8,9,36,39,42,54,65,72,75-97] |
| Copy number variation (CNV)-associated susceptibility: ACBD3, ACDK3, AK055856, ANGPT1, BC032899, BC039356, CABC1, CDC42BPA, CDKN2A, CLP-36, CXCR4, E2F1, GBE1, GCNT2, IDH1, ITPKB, HIST1H1B, KIAA1296, LIN9, MIXL1, PARP1, PDE5A, PDLIM1, PSEN2, SORBS1, SPOPL, STUM, ZNF517 | [98-100] |