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rs1320553543
|
|
|
0.010 |
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 |
|
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 |
|
rs1057519860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sixty five consecutive formalin-fixed paraffin-embedded (FFPE) melanoma samples were prospectively tested for BRAF mutations with the VE1 (anti-BRAF V600E) antibody and for both BRAF and NRAS mutations with the Idylla NRAS-BRAF-EGFR S492R Mutation Assay cartridges.
|
31415669 |
2019 |
|
rs10816595
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs112445441
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours.
|
31727009 |
2019 |
|
rs2228612
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The multivariate analysis showed that the DNMT1 rs2228612 polymorphism (HR = 12.126, 95% CI: 2.345-62.715, P = 0.003) is an independent predictor of poor overall survival in melanoma patients.
|
30950914 |
2019 |
|
rs2234663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study investigated whether a variable number tandem repeat (VNTR) polymorphism of interleukin-1 receptor antagonist (IL-1RA) gene (<i>IL-1RN</i>) located in intron 2 (rs2234663) is associated with cutaneous melanoma.
|
31788049 |
2019 |
|
rs267600971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recurrent D89N substitution in STK19 whose alterations were identified in 25% of human melanomas represents a gain-of-function mutation that interacts better with NRAS to enhance melanocyte transformation.
|
30712867 |
2019 |
|
rs397507482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first patient had stage IV BRAF K601E/L584F mutant melanoma that developed a regressed melanocytic nevus while being treated with pembrolizumab.
|
29152725 |
2019 |
|
rs4950928
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Each C-allele of the CHI3L1 rs4950928 genotype was associated with plasma YKL-40 level increases of 32% in the hospital melanoma cohort (p = 6 × 10<sup>-48</sup>) and 43% in the general population melanoma cohort (p = 7 × 10<sup>-13</sup>).
|
31563729 |
2019 |
|
rs749499406
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%).
|
30414346 |
2019 |
|
rs75570604
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs869329
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs869330
|
|
|
0.010 |
GeneticVariation |
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 |
|
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 |
|
rs1057519855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rarity of HRAS and KRAS Q61R mutants in malignant melanoma</span> let previous investigations erroneously conclude that SP174 is specific for NRAS Q61R-mutant protein.
|
29206715 |
2018 |
|
rs10951982
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate logistic regression, <i>RAC1</i> rs10951982 (OR 6.15, 95% CI: 2.98 to 13.41; <i>p</i> < 0.001) remained significantly associated with increased risk of melanoma.
|
29342889 |
2018 |
|
rs137854567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).
|
30003571 |
2018 |
|
rs2227981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM).
|
29090522 |
2018 |
|
rs2227982
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM).
|
29090522 |
2018 |
|
rs2536512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, minor alleles in <i>SOD2</i> rs8031 (OR 0.16, 95% CI: 0.06 to 0.39; <i>p</i> < 0.001) and <i>SOD3</i> rs2536512 (OR 0.08, 95% CI: 0.01 to 0.31; <i>p</i> = 0.001) were associated with reduced risk of melanoma.
|
29342889 |
2018 |
|
rs34090186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discrepancies found in this study indicate the variant rs34090186 in the MC1R gene, some variants of which were reported to be related to increased risk of PD and melanoma, may play a risk role in ET, confirming a potential association between ET and PD.
|
30252209 |
2018 |
|
rs542002959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygote p.G587S mutation in NLRP1 has been suggested as potentially causative for the onset of MS in an affected sibling pair, who later developed malignant melanoma.
|
28988323 |
2018 |
|
rs587780004
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observe selection for low-abundance PTEN variants in cancer, and show that p.Pro38Ser, which accounts for ~10% of PTEN missense variants in melanoma, functions via a dominant-negative mechanism.
|
29785012 |
2018 |
|
rs746273282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RGS7 was mutated in 11% of melanomas and was found to harbor three recurrent mutations (p.R44C, p.E383K and p.R416Q).
|
29330521 |
2018 |