|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We now demonstrate that DMS-MFH results from mutations in the most proximal of three previously uncharacterized terminal exons of the gene encoding methylthioadenosine phosphorylase, MTAP.
|
22464254 |
2012 |
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MTAP melanoma risk SNP genotype, associated with darker pigmentation, (rs4636294*A/A) was less common in amelanotic/hypomelanotic melanoma patients [OR (CI 95%) 0.8 (0.3-2.1) vs. 2.0 (1.3-3.1)].
|
30680790 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years.
|
31794051 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
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 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Four established melanoma susceptibility genes achieved nominal statistical significance, MC1R (p = .0014), MITF (p = .0165) BRCA2 (p = .0206), and MTAP (p = .0393).
|
29317335 |
2018 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we show that melanoma risk alleles correlate with a MTAP allele-specific hyper-methylation and down-regulation of gene expression.
|
27761950 |
2017 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic association studies have also suggested that genetic polymorphism in MTAP may modulate the risk of melanoma.
|
27479139 |
2016 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also detected fusion transcripts involving MTAP and ANRIL in two of the seven primary melanoma tumors with focal deletion at the locus.
|
26909863 |
2016 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
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 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We recently discovered a lack of methylthioadenosine phosphorylase (MTAP) expression in melanoma, which resulted in an accumulation of the metabolite 5'-methylthioadenosine (MTA) in melanoma cells and in the extracellular environment.
|
25087184 |
2014 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Loss of methylthioadenosine phosphorylase (MTAP) expression and a concomitant accumulation of 5'-methyl-thioadenosine (MTA) characterise several tumour entities including malignant melanoma.
|
23265702 |
2013 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
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 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.
|
21706340 |
2012 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results suggest that the relationship between MTAP and melanoma is subtype-specific, and that the association between IRF4 and melanoma is more evident for cases with a younger age at onset.
|
21962134 |
2011 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility.
|
21693730 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies three new melanoma susceptibility loci.
|
21983787 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies three new melanoma susceptibility loci.
|
21983787 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies three loci associated with melanoma risk.
|
19578364 |
2009 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies three loci associated with melanoma risk.
|
19578364 |
2009 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies three loci associated with melanoma risk.
|
19578364 |
2009 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In summary, we demonstrate significant inverse correlation between MTAP protein expression and progression of melanocytic tumors as the amount of MTAP protein staining decreases from benign melanocytic nevi to metastatic melanomas.
|
12875987 |
2003 |