rs401681
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk.
|
21116649 |
2011 |
rs401681
|
|
|
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 |
rs45430
|
|
|
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
|
|
|
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 |
rs3219090
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)).
|
21983785 |
2011 |
rs17119461
|
|
|
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 |
rs4698934
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The SNP rs4698934 was nominally significantly associated with melanoma risk.
|
24980573 |
2014 |
rs1801516
|
|
|
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 |
rs7023329
|
|
|
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
|
|
|
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 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial.
|
31157737 |
2020 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions.
|
31791701 |
2020 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi.
|
31102256 |
2020 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers.
|
31548614 |
2020 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma.
|
31796433 |
2020 |
rs121913227
|
|
|
0.800 |
GeneticVariation |
BEFREE |
V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices.
|
31305324 |
2020 |
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions.
|
31791701 |
2020 |
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial.
|
31157737 |
2020 |
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma.
|
31796433 |
2020 |
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers.
|
31548614 |
2020 |