|
rs401681
|
|
melanoma
|
|
0.860 |
GeneticVariation
|
BEFREE |
In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06).
|
25837821 |
2015 |
|
rs401681
|
|
melanoma
|
|
0.860 |
GeneticVariation
|
BEFREE |
In the melanoma dataset, two pancreatic cancer susceptibility variants were associated: NR5A2 (rs12029406; OR, 1.39; 95% CI, 1.01-1.92; P = 0.04) and CLPTM1L-TERT (rs401681; OR, 1.16; 95% CI, 1.01-1.34; P = 0.04).
|
24642353 |
2014 |
|
rs401681
|
|
melanoma
|
|
0.860 |
GeneticVariation
|
BEFREE |
We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)).
|
25457634 |
2014 |
|
rs401681
|
|
melanoma
|
|
0.860 |
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
|
|
melanoma
|
|
0.860 |
GeneticVariation
|
BEFREE |
Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk.
|
21116649 |
2011 |
|
rs401681
|
|
melanoma
|
|
0.860 |
GeneticVariation
|
BEFREE |
We evaluated the association between single nucleotide polymorphism (SNP) rs401681 (C > T) and mean telomere length, using quantitative real-time PCR, in blood-extracted DNA collected from 11,314 cancer-free participants from the Sisters in Breast Screening study, the Melanoma and Pigmented Lesions Evaluative Study melanoma family study, and the SEARCH Breast, Colorectal, Melanoma studies.
|
20570912 |
2010 |
|
rs3219090
|
|
melanoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
We confirmed the proposed role of rs3219090, located on the PARP1 gene, and rs12203592, located on the IRF4 gene, as protective to MM along the same lines as have previous genome-wide associated works.
|
23537197 |
2013 |
|
rs3219090
|
|
melanoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)).
|
21983785 |
2011 |
|
rs45430
|
|
melanoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (SNP), rs45430, in an intron of the MX2 gene, was previously reported as a novel melanoma susceptibility locus in genome-wide association studies.
|
31660681 |
2019 |
|
rs45430
|
|
melanoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06).
|
25837821 |
2015 |
|
rs17119461
|
|
melanoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
In the PanScan data, initial associations were found with melanoma susceptibility variants in NCOA6 [rs4911442; OR, 1.32; 95% confidence interval (CI), 1.03-1.70; P = 0.03], YWHAZP5 (rs17119461; OR, 2.62; 95% CI, 1.08-6.35; P = 0.03), and YWHAZP5 (rs17119490; OR, 2.62; 95% CI, 1.08-6.34; P = 0.03), TYRP1 (P = 0.04), and IFNA13 (P = 0.04).
|
24642353 |
2014 |
|
rs1801516
|
|
melanoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study.
|
23537197 |
2013 |
|
rs4698934
|
|
melanoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
The SNP rs4698934 was nominally significantly associated with melanoma risk.
|
24980573 |
2014 |
|
rs7023329
|
|
melanoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007).
|
23361049 |
2013 |
|
rs910873
|
|
melanoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Our results do not support an association between CMM and any of the STX17 SNPs and provide no evidence for interactions between the melanoma risk SNP rs910873 on chromosome 20 and any of the STX17 SNPs.
|
19209086 |
2009 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A.
|
27181379 |
2016 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas.
|
26225579 |
2015 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred.
|
20653773 |
2010 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
|
17397031 |
2007 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B.
|
14679123 |
2004 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation.
|
15221796 |
2004 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
|
11807902 |
2002 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation.
|
10951521 |
2000 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |