|
melanoma
|
|
0.100 |
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 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results demonstrate that MITF E318K reduces the program of senescence to potentially favor melanoma progression in vivo.
|
28376192 |
2017 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In melanoma, an increased penetrance is found in cases when pigmentation gene risk alleles such as MC1R variants are coincident with mutation of higher-risk melanoma genes including CDKN2A, CDK4 and MITF E318K, demonstrating an interface between the pathways for pigmentation, naevogenesis and melanoma.
|
28463841 |
2017 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition to melanoma risk, MITF p.E318K is associated with a high nevi count and could play a role in fast-growing melanomas.
|
26650189 |
2016 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control study on melanoma patients who coincidentally were affected by renal cell carcinoma (RCC) has revealed an elevated risk for mutation carriers to be affected by one or both of these malignancies, suggesting a possible role for MITF p.E318K in renal carcinogenesis.
|
26999813 |
2016 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies reported an increased risk of melanoma in individuals carrying the rare variant MITF, p.E318K (rs149617956).
|
27680874 |
2016 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls.
|
25803691 |
2015 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our study demonstrates a lack of strong association of E3</span>18K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon.
|
24767713 |
2014 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01).
|
24406078 |
2014 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.
|
23774529 |
2014 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer.
|
23167872 |
2013 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We identify one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF).
|
22080950 |
2011 |
|
melanoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls.
|
22012259 |
2011 |