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Gene or locus
Polymorphism
Risk of
Progression
Cases
Reference
Figl A, Mutat Res 2009, 661:78-84
rs1130409 (T>G, D148E)
-
Unchanged
-
929
-
ATG (+3 after nucleotide 94, exon 1)
CGG>CGA (codon 444, exon 11)
Unchanged
Unchanged
38
38
G468S (exon 11)
Unchanged
219
G468S (exon 11)
Unchanged
71
G468S/G469V (exon 11)
Unchanged
109
T1796A (V599E/K, exon 15)
Unchanged
60
Kirschner M, Melanoma Res 2005, 15:427-34
T1796A (V599E/K, exon 15)
Unchanged
50
Deichmann M, Oncology 2004, 66:411-9
T1796A (V599E/K, exon 15)
Unchanged
71
Omholt K, Clin Cancer Res 2003, 9:6483-8
T1796A (V599E/K, exon 15)
Unchanged
60
Deichmann M, BMC Cancer. 2005 Jun 3;5:58
T1796A/g1795A (V599E/K, exon 15)
Increased
54
Kirschner M, Melanoma Res 2005, 15:427-34
T1799A (V600E, exon 15)
Increased
56
Narita N, Oncogene 2009, Epub ahead of print
T1799A (V600E, exon 15)
Unchanged
219
T1799A (V600E, exon 15)
Unchanged
109
T1799A (V600E, exon 15)
Unchanged
18
Akslen LA, J Invest Dermatol 2005, 125:312-7
T1799A (V600E, exon 15)
Unchanged
38
Kumar R, J Invest Dermatol 2004, 122:342-8
Increased
-
122a
-
Rodero M, J Dermatol Sci 2007, 46:72-6
Chemokine (C-C motif) ligand 2
–2578 A>G [GG]
-
CCR5
Δ32 (32 bp deletion)
Unchanged
782
Chemokine (C-C motif) receptor 5
Δ32 (32 bp deletion)
Unchanged
125a
Ugurel S, Cancer Immunol Immunother 2008,
57:685-91
Rodero M, J Dermatol Sci 2007, 46:72-6
CD28
rs1181388 (G>A)
Unchanged
587
CD28 molecule
rs1181390 (G>T)
Unchanged
587
rs3116494 (A>G)
Unchanged
587
rs3116496 (IVS3 + 17, T>C)
Unchanged
587
rs3181098 (G>A, AG+AA)
Decreased
587
rs3181100 (C>G)
Unchanged
587
APEX1
APEX nuclease (multifunctional DNA
repair enzyme) 1 (APE-1)
BRAF
v-raf murine sarcoma viral oncogene
homolog B1
CCL2
Kumar R, J Invest Dermatol 2004, 122:342-8
Kumar R, J Invest Dermatol 2004, 122:342-8
Edlundh-Rose E, Melanoma Res 2006, 16:4718
Omholt K, Clin Cancer Res 2003, 9:6483-8
Ugurel S, Plos One 2007, 2:e236
Edlundh-Rose E, Melanoma Res 2006, 16:4718
Ugurel S, Plos One 2007, 2:e236
-
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol
2009, Epub ahead of print
Immunother
Immunother
Immunother
Immunother
Immunother
Immunother
rs3181101 (C>G)
Unchanged
587
rs3181107 (A>G)
Unchanged
587
rs17533594 (A>G)
Unchanged
587
CDKN2A
580 C>T (3’ UTR)
Increased
59
Cyclin-dependent kinase inhibitor 2A
(melanoma, p16, inhibits CDK4)
A148T (c.442 G>A, exon 2)
Unchanged
285
Hypermethylation (promoter)
Increased
71
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Sauroja I, Genes Chromosomes Cancer 2000,
28:404-14
Lamperska KM, Acta Biochim Pol 2007, 54:11924
Straume O, Am J Pathol 2002, 161:229-37
LOH at D9S942
Increased
39
Cachia AR, Clin Cancer Res 2000, 6:3511-5
LOH at D9S974, D9S736, D9S1870, D9S171
Unchanged
50
Straume O, Am J Pathol 2002, 161:229-37
Nt500c>g (3’ UTR)
Unchanged
185
Straume O, Am J Pathol 2002, 161:229-37
Nt500c>g (3’ UTR)
Unchanged
285
Nt540c>t (3’ UTR)
Decreased
185
Lamperska KM, Acta Biochim Pol 2007, 54:11924
Straume O, Am J Pathol 2002, 161:229-37
Nt540c>t (3’ UTR)
Increased
59
null (deletion)
Increased
190
CTLA4
rs231775 (CT42, A>G)
Unchanged
587
Cytotoxic T-lymphocyte-associated
protein 4
rs231777 (C>T)
Unchanged
587
rs3087243 (CT60, G>A)
Unchanged
587
rs5742909 (CT44, C>T)
Unchanged
587
rs7665213 (JO30, G>A)
Unchanged
587
rs11571297 (JO27, T>C)
Unchanged
587
rs11571302 (JO31, G>T)
Unchanged
587
rs11571319 (CT61, G>A)
Unchanged
587
rs16840252 (C>T)
Unchanged
587
Chemokine (C-X3-C motif) receptor 1
T280 (c.931C>T, rs3732378)
V249I (c.837 G>A, rs3732379)
Unchanged
Unchanged
127a
127a
DDIT3
null (gene deletion)
Increased
106
DNA-damage-inducible transcript 3
(GADD153)
-
-
EGF
rs4444903 (A61G, 5’ UTR, AluI)
rs4444903 (A61G, 5’ UTR, AluI, GG)
Unchanged
Increased
CX3CR1
Epidermal growth factor
418
130
Sauroja I, Genes Chromosomes Cancer 2000,
28:404-14
Straume O, Am J Pathol 2002, 161:229-37
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Rodero M, J Dermatol Sci 2007, 46:72-6
Rodero M, J Dermatol Sci 2007, 46:72-6
Korabiowska
17:805-11
-
M,
Histol
Histopathol
2002,
Casula M, BMC Dermatol 2009, 9:7
Okamoto I, J Invest Dermatol 2006, 126:2242-6
rs4444903 (A61G, 5’ UTR, AluI, GG)
Increased
135
Shahbazi M, Lancet 2002, 359:397-401
rs4444903 (A61G, 5’ UTR, AluI, G-allele)
Increased
135
Shahbazi M, Lancet 2002, 359:397-401
rs4444903 (A61G, 5’ UTR, AluI, GG)
Increased
159
McCarron SL, Int J Cancer 2003, 107:673-5
rs4444903 (A61G, 5’ UTR, AluI, GG)
Increased
753
James MR, J Invest Dermatol 2004, 123:760-2
rs4444903 (A61G, 5’ UTR, AluI)
Unchanged
330
Amend KL, Cancer Res 2004, 64:2668-72
Codon 118
-
Unchanged
-
90
-
Liu D, Clin Cancer Res 2005, 11:1237-46
rs 2228527 (A3716G, Arg1213Gly)
rs 4253211 (G3768C, Arg1230Pro)
Unchanged
Unchanged
1238
1238
−1377 G>A (promoter)
−670 A>G (promoter, AA+AG)
Unchanged
Increased
229
229
Zhang H, Cancer J 2007, 13:233-7
−844 T>C (promoter)
-
Unchanged
-
229
-
Zhang H, Cancer J 2007, 13:233-7
rs351855 (Gly388Arg)
-
Increased
-
322
-
Streit S, Br J Cancer 2006, 94:1879-86
GRB2-associated binding protein 2
Amplification and/or overexpression (locus 11q14.1)
-
Increased
-
79
-
GADD45A
null (gene deletion)
Increased
106
Growth arrest and DNA-damageinducible, alpha (GADD45)
-
-
GSTM1
null (gene deletion)
-
Increased
-
154
-
Bu H, Oncol Rep 2007, 17:859-64
BsmAI (A>G, Ile>Val)
-
Unchanged
-
154
-
Bu H, Oncol Rep 2007, 17:859-64
null (gene deletion)
-
Unchanged
-
154
-
Bu H, Oncol Rep 2007, 17:859-64
Increased
152
Okamoto I, Int J Cancer 2006, 119:1312-5
Unchanged
152
Okamoto I, Int J Cancer 2006, 119:1312-5
ERCC1
Excision repair cross-complementing
rodent repair deficiency,
complementation group 1 (includes
overlapping antisense sequence)
ERCC6
Excision repair cross-complementing
rodent repair deficiency,
complementation group 6 (CSB)
FAS
Fas (TNF receptor
member 6, CD95)
superfamily,
FASLG
Fas ligand (TNF superfamily, member
6, CD95 ligand)
FGFR4
Fibroblast growth factor receptor 4
GAB2
Glutathione S-transferase mu 1
GSTP1
Glutathione S-transferase pi 1
GSTT1
Glutathione S-transferase theta 1
HMOX1
Heme oxygenase (decycling) 1 (HO-1)
Short (<25) vs Long GT repeats (promoter, Short
homozygous, microsatellite polymorphism, SS)
Short (<25) vs Long GT repeats (promoter, Short
homozygous, microsatellite polymorphism)
b
-
-
Millikan RC, Carcinogenesis 2006, 27:610-8
Millikan RC, Carcinogenesis 2006, 27:610-8
Zhang H, Cancer J 2007, 13:233-7
-
Horst B, Am J Pathol 2009, 174:1524-33
Korabiowska
17:805-11
-
M,
Histol
Histopathol
-
-
-
2002,
5 cell
lines
-
KISS1
null (gene deletion)
Increased
KiSS-1 metastasis-suppressor
-
-
ICAM1
G241R (c.G721A, exon 4, GG)
Decreased
164
Howell WM, Int J Immunogenet 2005, 32:367-73
Intercellular adhesion molecule 1
(CD54)
K469E (c.A1405G, exon 6)
Unchanged
164
Howell WM, Int J Immunogenet 2005, 32:367-73
ICOS
rs4335928 (T>C)
Unchanged
587
Inducible T-cell co-stimulator
rs4521021 (T>C)
Unchanged
587
rs4675374 (C>T)
Unchanged
587
rs7602383 (A>G)
Unchanged
587
rs10172036 (G>T)
Unchanged
587
rs10183087 (A>C)
Unchanged
587
rs10932029 (+173, T>C)
Unchanged
587
rs10932036 (A>T)
Unchanged
587
rs11571323 (G>A, AA)
Increased
587
rs12466129 (T>A)
Unchanged
587
+874 T/A (intron 1, TT)
+874 T/A (intron 1)
Increased
Unchanged
90
42
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Bouwhuis MG, Cancer Immunol Immunother
2009, Epub ahead of print
Liu D, Clin Cancer Res 2005, 11:1237-46
+874 T/A (intron 1)
Unchanged
169
−511 T>C (TT)
−35 T>C
Decreased
Unchanged
169
169
Howell WM, Eur J Immunogenet, 30:409-414
−330 T>G
-
Unchanged
-
169
-
Howell WM, Eur J Immunogenet, 30:409-414
Unchanged
-
169
-
Howell WM, Eur J Immunogenet, 30:409-414
Interleukin 4
−590 T>C
-
IL6
−174 G/C (promoter)
Unchanged
42
Interleukin 6 (interferon, beta 2)
−174 G/C (promoter)
Unchanged
169
Martínez-Escribano JA, Melanoma Res 2002,
12:465-9
Howell WM, Eur J Immunogenet, 30:409-414
IL8
Unchanged
-
169
Howell WM, Eur J Immunogenet, 30:409-414
Interleukin 8
−251 T>A
-
IL10
−1082 G/A (promoter, AA)
Increased
16
IFNG
Interferon, gamma
IL1B
Interleukin 1, beta
IL2
Interleukin 2
IL4
Lee JH, J Natl Cancer Inst 1996, 88:1731-7
-
Martínez-Escribano JA, Melanoma Res 2002,
12:465-9
Howell WM, Eur J Immunogenet, 30:409-414
Howell WM, Eur J Immunogenet, 30:409-414
-
-
-
von Euw EM, J Transl Med 2008, 6:6
−1082 G/A (promoter)
Unchanged
90
Liu D, Clin Cancer Res 2005, 11:1237-46
−1082 G/A (promoter)
Unchanged
98
Alonso R, Melanoma Res 2005, 15:53-60
−1082 G/A (promoter, AA)
Increased
165
−819 C/T (promoter)
Unchanged
98
−819 C/T (promoter)
Unchanged
165
−592 C/A (promoter)
Unchanged
98
−592 C/A (promoter)
Unchanged
165
Howell WM, Genes and Immunity 2001, 2:25-31
ATA haplotype (at positions −1082 G/A, −819 C/T, −
592 C/A)
ACC/ACC, ACC/ATA, ATA/ATA haplotypes (at
positions −1082 G/A, −819 C/T, −592 C/A)
ACC/ATA haplotypes (at positions −1082 G/A, −819
C/T, −592 C/A)
A1188C
-
Unchanged
108
Vuoristo MS, Cancer Genet Cytogenet 2007,
176:54-7
Increased
165
Howell WM, Genes and Immunity 2001, 2:25-31
Increased
42
Martínez-Escribano JA, Melanoma Res 2002,
12:465-9
Unchanged
-
169
-
Howell WM, Eur J Immunogenet, 30:409-414
+252 G/A
-
Unchanged
-
146
-
Howell WM, Eur J Immunogenet 2002, 29:17-23
LZTS1
Null (gene deletion, 8p22)
Increased
Leucine zipper, putative tumor
suppressor 1
-
-
MC1R
Any variant
NRHC alleles (V60L, V92M, I155T, R163Q)
Increased
Increased
147
147
Landi MT, J Natl Cancer Inst 2005, 97:998-1007
One or more RHC alleles (D84E, R142H, R151C,
R160W, D294H)
Two variants (RHC/RHC, NRHC/NRHC,
RHC/NRHC)
null (6q22.33-q24.1, gene deletion)
-
Increased
147
Landi MT, J Natl Cancer Inst 2005, 97:998-1007
Increased
147
Landi MT, J Natl Cancer Inst 2005, 97:998-1007
Increased
-
20
-
Amplification (locus 3p13-3p14)
-
Increased
-
206
-
Garraway LA, Nature 2005, 436:117-22
1G/2G (-1607, promoter, 5’-GGA-3’, 2G)
Increased
8 cell
lines
Rutter JL, Cancer Res 1998, 58:5321-5
Interleukin 10
IL12A
Interleukin 12A (natural killer cell
stimulatory factor 1, cytotoxic
lymphocyte maturation factor 1, p35)
(IL12)
LTA
Lymphotoxin alpha (TNF superfamily,
member 1)
Melanocortin 1 receptor (alpha
melanocyte stimulating hormone
receptor)
MED23
Mediator complex subunit 23 (CRSP3)
MITF
Microphthalmia-associated
transcription factor
MMP1
53
(uveal)
-
Howell WM, Genes and Immunity 2001, 2:25-31
Alonso R, Melanoma Res 2005, 15:53-60
Howell WM, Genes and Immunity 2001, 2:25-31
Alonso R, Melanoma Res 2005, 15:53-60
-
Onken MD, Clin Cancer Res 2008, 14:3737-45
-
Landi MT, J Natl Cancer Inst 2005, 97:998-1007
Goldberg SF, Cancer Res 2003, 63:432-40
-
-
Matrix metallopeptidase 1 (interstitial
collagenase)
1G/2G (-1607, promoter, 5’-GGA-3’, 2G)
Increased
139
MMP2
rs243865 (-1306 C/T)
rs2285053 (-735 C/T)
Unchanged
Unchanged
1002
1002
Cotignola J, J Negat Results Biomed 2007, 6:9
rs3025058 (-1171 5A/6A)
-
Unchanged
-
1002
-
Cotignola J, J Negat Results Biomed 2007, 6:9
rs2250889 (P574R, C>G)
rs2274756 (R668Q, G>A)
Unchanged
Unchanged
538
1002
Cotignola J, BMC Med Genet 2007, 8:10
rs2664538 (Q279R, A>G)
Unchanged
1002
Cotignola J, BMC Med Genet 2007, 8:10
rs3918242 (-1562, C>T)
Unchanged
1002
Cotignola J, BMC Med Genet 2007, 8:10
rs3918252 (N127K, C>G)
Unchanged
538
Cotignola J, BMC Med Genet 2007, 8:10
rs8125581 (D165N, G>A)
Unchanged
538
Cotignola J, BMC Med Genet 2007, 8:10
NFKB1
ATTG1/ATTG1 genotype (-94insATTG, promoter)
Decreased
185
Nuclear factor of kappa light
polypeptide gene enhancer in B-cells 1
-
-
Bu H, J Cancer Res Clin Oncol 2007, 133:85966
-
NME1
null (gene deletion)
-
Increased
-
33
-
G12D or G13D/R (exon 1)
G12D or G13D/R (exon 1)
Decreased
Unchanged
109
18
G12D or G13D/R (exon 1)
Unchanged
38
Kumar R, J Invest Dermatol 2004, 122:342-8
CAA(Gln)>AAA(Lys)/CGA(Arg)/CAT(His)/TTA(Leu)
(codon 61, exon 2)
CAA(Gln)>AAA(Lys)/CGA(Arg)/CAT(His)/TTA(Leu)
(codon 61, exon 2)
CAA(Gln)>AAA(Lys)/CGA(Arg)/CAT(His)/TTA(Leu)
(codon 61, exon 2)
CAA(Gln)>AAA(Lys)/CGA(Arg)/CAT(His)/TTA(Leu)
(codon 61, exon 2)
CAA(Gln)>AAA(Lys)/CGA(Arg)/CAT(His)/TTA(Leu)
(codon 61, exon 2) or R68T
CAA(Gln)>AAA(Lys)/CGA(Arg) (codon 61, exon 2)
Increased
88
Omholt K, Clin Cancer Res 2002, 8:3468-74
Unchanged
219
Unchanged
18
Akslen LA, J Invest Dermatol 2005, 125:312-7
Unchanged
71
Omholt K, Clin Cancer Res 2003, 9:6483-8
Decreased
109
Unchanged
38
PPP1R15A
null (gene deletion)
Increased
106
Protein phosphatase 1, regulatory
(inhibitor) subunit 15A (GADD34)
-
-
Matrix metallopeptidase 2 (gelatinase
A, 72kDa gelatinase, 72kDa type IV
collagenase)
MMP3
Matrix metallopeptidase 3 (stromelysin
1, progelatinase)
MMP9
Matrix metallopeptidase 9 (gelatinase
B, 92kDa gelatinase, 92kDa type IV
collagenase)
Non-metastatic cells 1, protein
(NM23A) expressed in (NM23)
NRAS
Neuroblastoma RAS viral (v-ras)
oncogene homolog
-
-
Ye S, Cancer Res 2001, 61:1296-8
Cotignola J, J Negat Results Biomed 2007, 6:9
-
Cotignola J, BMC Med Genet 2007, 8:10
Flørenes VA, Cancer Res 1992, 52:6088-91
Ugurel S, Plos One 2007, 2:e236
Akslen LA, J Invest Dermatol 2005, 125:312-7
Edlundh-Rose E, Melanoma Res 2006, 16:4718
Ugurel S, Plos One 2007, 2:e236
Kumar R, J Invest Dermatol 2004, 122:342-8
Korabiowska
17:805-11
-
M,
Histol
Histopathol
2002,
Millikan RC, Carcinogenesis 2006, 27:610-8
rs1805329 (C1097T, Ala249Val)
-
Unchanged
-
1238
-
Unchanged
-
56
-
Narita N, Oncogene 2009, Epub ahead of print
Ret proto-oncogene
G691S
-
TGFB1
+915 G/C (Arg25>Pro, exon 1)
Unchanged
169
Transforming growth factor, beta 1
-
-
Howell WM, Eur J Immunogenet 2003, 30:409414
-
TNF
−376 G/A (promoter)
−308 G/A (promoter)
Unchanged
Unchanged
146
146
Howell WM, Eur J Immunogenet 2002, 29:17-23
−238 G/A (promoter)
Unchanged
146
Howell WM, Eur J Immunogenet 2002, 29:17-23
FokI (exon 2, rs2228570, C>T, Met1Thr)
FokI (exon 2, rs2228570, C>T, Met1Thr)
Unchanged
Unchanged
171
316
Halsall JA, Br J Cancer 2004, 91:765-70
GATA (A–1012G, exon 1a, promoter, rs4516035,
AA)
GATA (A–1012G, exon 1a, promoter, rs4516035, A
allele)
G–1520C (rs7139166, promoter, G allele)
Increased
171
Hutchinson PE, Clin Cancer Res 2000, 6:498504
Halsall JA, Br J Cancer 2004, 91:765-70
Increased
157
Halsall JA, Dermatoendocrinol 2009, 1:54-7
Increased
157
Halsall JA, Dermatoendocrinol 2009, 1:54-7
TaqI (exon 9, rs731236, codon 352, T>C)
Unchanged
171
Halsall JA, Br J Cancer 2004, 91:765-70
TaqI (exon 9, rs731236, codon 352, T>C, tt)
Increased
316
FokI/TaqI
Unchanged
171
Hutchinson PE, Clin Cancer Res 2000, 6:498504
Halsall JA, Br J Cancer 2004, 91:765-70
FokI/TaqI (tt/ff)
Increased
316
GATA/ FokI (AAFF+AAff)
Increased
171
Hutchinson PE, Clin Cancer Res 2000, 6:498504
Halsall JA, Br J Cancer 2004, 91:765-70
GATA/ G–1520C (AG)
Increased
157
Halsall JA, Dermatoendocrinol 2009, 1:54-7
GATA/ G–1520C (AC/GG/GC)
Unchanged
157
Halsall JA, Dermatoendocrinol 2009, 1:54-7
GATA/TaqI
Unchanged
171
Halsall JA, Br J Cancer 2004, 91:765-70
VEGFA
–2578 C>A
Unchanged
152
Vascular endothelial growth factor A
(VEGF)
–1154 G>A (AA)
Decreased
152
+405 G>C (exon 1)
Unchanged
152
+936 T>C (exon 8)
Unchanged
152
CAC haplotype (–2578 C>A, –1154 G>A, +405
G>C)
rs2228001 (exon 16, A2920C, Lys939Gln)
Decreased
152
Howell
232
Howell
232
Howell
232
Howell
232
Howell
232
Unchanged
1238
RAD23B
RAD23 homolog B (S. cerevisiae)
(HR23B, RD23B)
RET
Tumor necrosis factor (TNF
superfamily, member 2) (TNF-alpha)
VDR
Vitamin D (1,25- dihydroxyvitamin D3)
receptor
XPC
-
-
-
Howell WM, Eur J Immunogenet 2002, 29:17-23
WM, Genes and Immunity 2002, 3: 229–
WM, Genes and Immunity 2002, 3: 229–
WM, Genes and Immunity 2002, 3: 229–
WM, Genes and Immunity 2002, 3: 229–
WM, Genes and Immunity 2002, 3: 229–
Millikan RC, Carcinogenesis 2006, 27:610-8
Xeroderma pigmentosum C
-
-
XPD
rs13181 (exon 23, A35931C, PstI, Lys751Gln, Gln/
Gln)
rs13181 (exon 23, A35931C, PstI, Lys751Gln)
Increased
Unchanged
90
rs13181 (exon 23, A35931C, PstI, Lys751Gln, Lys/
Gln)
rs13181 (exon 23, A35931C, PstI, Lys751Gln, Gln/
Gln)
rs1799793 (exon 10, G23529A, Asp312Asn,
Asn/Asn)
Two-SNP haplotype (rs13181 [C] and rs1799793
[A])
rs1799797 (T2063A)
rs 1800067 (G17103A, Arg415Gln)
Increased
244
Kertat K, Oncol Rep 2008, 20:179-83
Decreased
244
Kertat K, Oncol Rep 2008, 20:179-83
Increased
1238
Millikan RC, Carcinogenesis 2006, 27:610-8
Increased
1238
Millikan RC, Carcinogenesis 2006, 27:610-8
Unchanged
Unchanged
1238
1238
Millikan RC, Carcinogenesis 2006, 27:610-8
rs17655 (exon 15, G3507C, NlaIII, Asp1104His)
-
Unchanged
-
1238
-
Millikan RC, Carcinogenesis 2006, 27:610-8
rs25487 (exon 10, G>A, MspI, R339Q, G28152A,
AA)
rs25487 (exon 10, G>A, MspI, R339Q, G28152A)
Decreased
929
Unchanged
90
rs25489 (G>A, R280H)
Unchanged
929
Figl A, Mutat Res 2009, 661:78-84
rs3213245 (–77 T>C, CC)
Increased
929
Figl A, Mutat Res 2009, 661:78-84
Xeroderma pigmentosum D (ERCC2)
XPF
Xeroderma pigmentosum F (ERCC4,
RAD1)
XPG
Xeroderma pigmentosum G (ERCC5)
XRCC1
X-ray repair complementing defective
repair in Chinese hamster cells 1
a
b
28% familial melanoma cases
all familial melanoma cases
1238
Millikan RC, Carcinogenesis 2006, 27:610-8
Liu D, Clin Cancer Res 2005, 11:1237-46
Millikan RC, Carcinogenesis 2006, 27:610-8
Figl A, Mutat Res 2009, 661:78-84
Liu D, Clin Cancer Res 2005, 11:1237-46
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