rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D594V) mutation in the same gene and 3 nevi had mutations in codon 61 of the N-ras gene.
|
15009715 |
2004 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P = .006).
|
28376192 |
2017 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
All neoplastic melanocytes within such a nevus would be expected to carry the BRAF mutation, and thus we evaluated the frequency of cells with BRAF(V600E) mutations within acquired nevi by droplet digital polymerase chain reaction.
|
23690527 |
2013 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation.
|
29653212 |
2018 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells.
|
25380183 |
2015 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations.
|
25857817 |
2015 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus).
|
15373778 |
2004 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus.
|
24614711 |
2014 |
rs113488022
|
|
|
0.090 |
GeneticVariation |
BEFREE |
There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus.
|
24471189 |
2014 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus).
|
15373778 |
2004 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
All neoplastic melanocytes within such a nevus would be expected to carry the BRAF mutation, and thus we evaluated the frequency of cells with BRAF(V600E) mutations within acquired nevi by droplet digital polymerase chain reaction.
|
23690527 |
2013 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus.
|
24471189 |
2014 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells.
|
25380183 |
2015 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus.
|
24614711 |
2014 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations.
|
25857817 |
2015 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation.
|
29653212 |
2018 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D594V) mutation in the same gene and 3 nevi had mutations in codon 61 of the N-ras gene.
|
15009715 |
2004 |
rs121913377
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P = .006).
|
28376192 |
2017 |
rs149617956
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P = .006).
|
28376192 |
2017 |
rs149617956
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.
|
23774529 |
2014 |
rs149617956
|
|
|
0.030 |
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 |
rs121434595
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy.
|
26400620 |
2017 |
rs121434595
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Focused amplicon deep sequencing on DNA extracted from the brain tumor and a cutaneous nevus revealed a heterozygous (c.37G>C; p.G13R) substitution in the NRAS gene.
|
25330907 |
2014 |
rs104894228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy.
|
26400620 |
2017 |
rs10754833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucleotide polymorphisms with r(2) > 0.9: rs3768080 A allele associated with reduced count, P = 6.5 × 10(-8); and rs10754833 T allele associated with reduced count, P = 1.5 × 10(-7)).
|
21478494 |
2011 |