|
rs2153977
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In vitro and in silico analyses indicated that the rs2153977-T protective allele, located in an NB and CMM enhancer, decreased expression of SLC16A1 via long-range loop formation and altered a T-box protein binding site.
|
31605138 |
2019 |
|
rs2234663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study investigated whether a variable number tandem repeat (VNTR) polymorphism of interleukin-1 receptor antagonist (IL-1RA) gene (<i>IL-1RN</i>) located in intron 2 (rs2234663) is associated with cutaneous melanoma.
|
31788049 |
2019 |
|
rs3200401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our results suggest that there is no contribution of MALAT1 rs3200401 and rs619586 polymorphisms or polymorphisms in the core promoter that could be associated with the risk of melanoma skin cancer in this specific study setting.
|
30870271 |
2019 |
|
rs619586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our results suggest that there is no contribution of MALAT1 rs3200401 and rs619586 polymorphisms or polymorphisms in the core promoter that could be associated with the risk of melanoma skin cancer in this specific study setting.
|
30870271 |
2019 |
|
rs869330
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This exploratory study is the first to show a significant association between the rs869330 variant (in the MTAP gene) and outcome in a large CM population.
|
30681428 |
2019 |
|
rs2227981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM).
|
29090522 |
2018 |
|
rs2227982
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM).
|
29090522 |
2018 |
|
rs1544410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BsmI (rs1544410) and FokI (rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy.
|
28884047 |
2017 |
|
rs2228570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BsmI (rs1544410) and FokI (rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy.
|
28884047 |
2017 |
|
rs2910164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sex-specific effect of RNASEL rs486907 and miR-146a rs2910164 polymorphisms' interaction as a susceptibility factor for melanoma skin cancer.
|
28654546 |
2017 |
|
rs486907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sex-specific effect of RNASEL rs486907 and miR-146a rs2910164 polymorphisms' interaction as a susceptibility factor for melanoma skin cancer.
|
28654546 |
2017 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have assessed reported studies by meta-analysis to perform a more precise estimation of the association between the XRCC1 two polymorphisms (Arg399Gln, Arg194Trp) and risk of cutaneous melanoma.
|
26967970 |
2016 |
|
rs10492396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001).
|
25243787 |
2015 |
|
rs149617956
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations.
|
25803691 |
2015 |
|
rs1990330
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM.
|
25628125 |
2015 |
|
rs206118
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001).
|
25243787 |
2015 |
|
rs3752447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001).
|
25243787 |
2015 |
|
rs4444903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, the meta-analysis with 2167 cases/4211 controls showed that the EGF rs4444903 had no significant association with CM (p>0.05), while the analysis with 3,492 cases/5,381 controls indicated the A allele of XPD rs13181 was significantly associated with CM (odds ratio= 0.93, 95% CI: 0.87-0.99; p=0.019).
|
25537294 |
2015 |
|
rs62068372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001).
|
25243787 |
2015 |
|
rs7944031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM.
|
25628125 |
2015 |
|
rs2228001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analysis in Caucasians showed that there was an obvious association between XPC Lys939Gln</span> polymorphism and cutaneous melanoma risk in Caucasians (GlnGln vs. LysLys/LysGln: OR = 1.12, 95 % CI = 1.00-1.25, P = 0.05).
|
24277375 |
2014 |
|
rs12512631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found association between SNP rs12512631, located 3'downstream of GC, and risk of CM that seems to fit a dominant model (OR 1.63 95%CI 1.23-2.17 p-value 7×10(-4)).
|
23544077 |
2013 |
|
rs222016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, we confirmed evidence of an association between CM susceptibility and the linkage disequilibrium block marked by tag-SNP rs222016 (p-value 0.032).
|
23544077 |
2013 |
|
rs121913378
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The classical V600E BRAF mutation was not found; instead a novel V600L was observed suggesting that the oncogenic event in OMM is different from that in skin melanoma.
|
21750866 |
2011 |
|
rs3731249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil.
|
21895773 |
2011 |