rs1015362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Except for rs1015363, none of the 12 tagging SNPs, genotyped to cover 239.9 kb region with polymorphisms linked to rs4911414 and rs1015362, were associated with melanoma.
|
22628150 |
2013 |
rs1015363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Except for rs1015363, none of the 12 tagging SNPs, genotyped to cover 239.9 kb region with polymorphisms linked to rs4911414 and rs1015362, were associated with melanoma.
|
22628150 |
2013 |
rs10231520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified three SNPs that were associated with decreased melanoma risk in additive models: rs10231520 (OR: 0.83, 95% CI: 0.70-0.98), rs17817117 (OR: 0.82, 95% CI: 0.68-0.98), and rs2301641 (OR: 0.83, 95% CI: 0.69-0.98).
|
23770371 |
2013 |
rs1024708183
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We studied global gene expression in three melanoma cell lines with the most common and potent V600E mutation in the B-RAF gene-four cell lines with a common Q61R mutation in the N-RAS gene and three cell lines with no mutations using human HG-U133A 2.0 micro-arrays with 22 277 transcripts.
|
15760917 |
2005 |
rs1024708183
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Formalin-fixed and paraffin-embedded melanoma tissues were analyzed for BRAF and NRAS mutations by independent, blinded observers using both conventional DNA molecular techniques and immunohistochemistry with the novel anti-human N-Ras (Q61R) monoclonal antibody (clone SP174).
|
25341653 |
2015 |
rs1034265990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded.
|
30586141 |
2019 |
rs1035142
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies three new melanoma susceptibility loci.
|
21983787 |
2011 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our meta-analysis based on all studies shows that the p53 Arg72Pro polymorphism may increase individual susceptibility to CM, particularly in Caucasians and could serve as a biomarker to predict the population at high risk of CM.
|
25774791 |
2015 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data suggest for the first time that P53 Arg72Pro, MDM2 c.+309T>G, BAX c.-248G>A, and BCL2 c.-717C>A polymorphisms, enrolled in apoptosis pathways, constitute distinct determinants of CM in women and men.
|
24461648 |
2014 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies.
|
18814047 |
2009 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Risk of cancer specific mortality, cardiovascular mortality, and respiratory mortality were not associated with Arg72Pro genotype overall; however, in exploratory subgroup analyses, genotype-associated risks of malignant melanoma and diabetes were altered.
|
28336930 |
2017 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma.
|
23568549 |
2013 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports.
|
22336942 |
2012 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This meta-analysis suggests that genotypes for the TP53 rs1042522 G>C polymorphism might not be associated with the risk of melanoma.
|
26148609 |
2016 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007.
|
31612033 |
2019 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls).
|
16739124 |
2006 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro.
|
19318491 |
2009 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No associations were found among the SNP309, Arg72Pro, risk of CM, age at diagnosis and presence of metastasis in total subjects and when stratified according to the gender.
|
20535124 |
2010 |
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
rs104894094
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894094
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |