|
rs9995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant associations between single nucleotide polymorphisms (rs9995, rs867185 and rs1063045) or referring calculated haplotypes and melanoma risk were identified.
|
17496786 |
2007 |
|
rs9960018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The significant associations observed for rs7538876 and rs9960018 suggest a biological implication of these loci in melanoma progression.
|
24188633 |
2013 |
|
rs993022333
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
V559A and N822I double KIT mutant melanoma with predictable response to imatinib?
|
21159146 |
2011 |
|
rs947005337
|
|
|
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 |
|
rs927650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis.
|
22576141 |
2012 |
|
rs910873
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
|
rs910873
|
|
T |
0.810 |
GeneticVariation |
GWASCAT |
Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)).
|
18488026 |
2008 |
|
rs910873
|
|
T |
0.810 |
GeneticVariation |
GWASDB |
Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)).
|
18488026 |
2008 |
|
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 |
|
rs910871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs910871, one of the six variants, genotyped to cover NCOA6, showed an association with melanoma risk (OR 1.33, 95% CI 1.04-1.70).
|
22628150 |
2013 |
|
rs910532454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The same somatic point mutation (G574A; V160I) in the fourth transmembrane region of CXCR4 was detected in one colon cancer cell line (PD) and one melanoma cell line (LB).
|
19305148 |
2009 |
|
rs886040456
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, we report an increased melanoma risk among carriers of the N991D change of the BRCA2 and no association of the CHEK2 changes with malignant melanoma.
|
18024013 |
2008 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
|
23647022 |
2013 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The R163Q variant in <i>MC1R</i> may not be a risk factor for melanoma among NM Hispanics.
|
31488411 |
2019 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Six variants, all non-synonymous changes, were individually associated with MM risk (Arg160Trp, Asp294His, Val60Leu, Val92Met, Ile155Thr and Arg163Gln).
|
17434924 |
2007 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
It also supports the association between R163Q variant and MM risk in the population on the Canary Islands, as opposed to reported on northern populations.
|
24170137 |
2014 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The 7 variants p.D84E, p.R142H, p.R151C, p.I155T, p.R160W, p. R163Q and p.D294H were significantly associated with melanoma development, with ORs (95%CI) ranging from 1.42 (1.09-1.85) for p.R163Q to 2.45 (1.32-4.55) for p.I155T.
|
18366057 |
2008 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Val60Leu, Val92Met, and Arg163Gln variant alleles, however, were only weakly or not associated with fair skin type and/or red hair, which further illustrates the finding that skin type, hair color, and melanoma are independent outcomes of the presence of melanocortin 1 receptor gene variants.
|
11511307 |
2001 |
|
rs878854066
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro.
|
19318491 |
2009 |