|
rs401681
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The rs401681 polymorphism was significantly associated with a decreased risk of lung cancer, bladder cancer, and basal cell carcinoma in Asians and in hospital-based studies.
|
29254260 |
2017 |
|
rs401681
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC</span> was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002).
|
25159867 |
2015 |
|
rs401681
|
|
C |
0.740 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs401681
|
|
|
0.740 |
GeneticVariation |
BEFREE |
These findings suggested that rs401681 C allele was a low-penetrance risk allele for the development of cancers of lung, bladder, prostate and basal cell carcinoma, but a potential protective allele for melanoma and pancreatic cancer.
|
23226346 |
2012 |
|
rs401681
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.
|
21116649 |
2011 |
|
rs401681
|
|
|
0.740 |
GeneticVariation |
GWASDB |
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
|
19151717 |
2009 |
|
rs1805007
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034).
|
25159867 |
2015 |
|
rs1805007
|
|
T |
0.730 |
GeneticVariation |
GWASDB |
A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
|
21700618 |
2011 |
|
rs1805007
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
|
21700618 |
2011 |
|
rs1805007
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Especially, variant R151C significantly increased the risk of both MM and BCC.
|
18637131 |
2009 |
|
rs12210050
|
|
T |
0.710 |
GeneticVariation |
GWASDB |
We identified that an SNP rs12210050 at 6p25 near the EXOC2 gene was associated with an increased risk of BCC [rs12210050[T]: combined OR (95% CI), 1.24 (1.17-1.31); P= 9.9 × 10(-10)].
|
21700618 |
2011 |
|
rs12210050
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified that an SNP rs12210050 at 6p25 near the EXOC2 gene was associated with an increased risk of BCC [rs12210050[T]: combined OR (95% CI), 1.24 (1.17-1.31); P= 9.9 × 10(-10)].
|
21700618 |
2011 |
|
rs7335046
|
|
G |
0.710 |
GeneticVariation |
GWASDB |
In the locus on 13q32 near the UBAC2 gene encoding ubiquitin-associated domain-containing protein 2, we also identified a variant conferring susceptibility to BCC [rs7335046 [G]; combined OR (95% CI), 1.26 (1.18-1.34); P= 2.9 × 10(-8)].
|
21700618 |
2011 |
|
rs7335046
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the locus on 13q32 near the UBAC2 gene encoding ubiquitin-associated domain-containing protein 2, we also identified a variant conferring susceptibility to BCC [rs7335046 [G]; combined OR (95% CI), 1.26 (1.18-1.34); P= 2.9 × 10(-8)].
|
21700618 |
2011 |
|
rs17710891
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Smoothened variants explain the majority of drug resistance in basal cell carcinoma.
|
25759020 |
2015 |
|
rs869025212
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
|
25687217 |
2015 |
|
rs157935
|
|
T |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs214782
|
|
G |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs214803
|
|
G |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs2151280
|
|
G |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs59586681
|
|
T |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs7006527
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs7538876
|
|
A |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs78378222
|
|
G |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |
|
rs801114
|
|
G |
0.700 |
GeneticVariation |
GWASDB |
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
|
24403052 |
2014 |