|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hemizygous deletion mainly affected BAP1 (21 vs 6), while monosomy was prevalent for CDKN2A (14 vs 7) and particularly for NF2 where it accounts for all monoallelic losses.
|
31570769 |
2020 |
|
Monosomy
|
0.100 |
Biomarker
|
group |
BEFREE |
Concluding, vascular density of UM relates to its genetic profile: Monosomy 3 and BAP1-loss are associated with an increased MVD, while an early event (gain of 8q) is not independently related to MVD, but may initiate a preparation phase towards development of vessels.
|
31337000 |
2019 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Notably, tumors demonstrating chromosome 3 monosomy and BAP1 alterations formed a homogeneous subset within this group.<b>Conclusions:</b> Integrated molecular profiling aids in distinguishing primary from metastatic melanocytic tumors of the central nervous system.
|
29891723 |
2018 |
|
Monosomy
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Loss of BAP1 protein expression and monosomy 3 represent the strongest predictors of metastases, and may have important implications for implementation of patient surveillance, properly designed clinical trials enrollment, and adjuvant therapy.
|
29689622 |
2018 |
|
Monosomy
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The presence or absence of suppression of nuclear expression of BAP1 was strongly associated (73%, P = .000002) with monosomy and disomy chromosome 3, respectively.
|
29530782 |
2018 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chi-square test confirmed an association between angiotropism and metastasis and death but none with BAP1 mutation and monosomy 3.
|
28240745 |
2017 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
BAP1 sequencing and gene dosage analysis of BAP1 exons by multiplex ligation-dependent probe amplification revealed a mutation in 33 (89%) of 37 tumors with monosomy 3 (M3) or isodisomy 3.
|
27015033 |
2016 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
BAP1 mutations are significantly associated with chromosome 3 monosomy but not with relapse.
|
24423917 |
2014 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
After adjustment for covariates, a chromosome 3 monosomy/BAP1-mutation/EIF1AX-wild-type (WT) mutation profile was strongly associated (OR 37.5, 95% CI 4.3-414) with the presence of metastasis compared with a chromosome 3 disomy/BAP1-WT/EIF1AX mutation profile.
|
24970262 |
2014 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The tumour suppressor gene BAP1 was found to be recurrently mutated in UM with monosomy 3.
|
24187051 |
2014 |
|
Monosomy
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Lower BAP1 gene expression and negative BAP1 immunostaining (50% of 28 tumours were immunonegative) were both associated with these markers for prognostication: FISH cut-off 30% monosomy 3 (BAP1 gene expression: p=0.037; BAP1 immunostaining: p=0.001), SNP-monosomy 3 (BAP1 gene expression: p=0.008; BAP1 immunostaining: p=0.002) and class 2 profile (BAP1 gene expression: p<0.001; BAP1 immunostaining: p=0.001) and were themselves associated with an increased risk of death due to metastasis (BAP1 gene expression dichotomised: HR 8.7, p=0.006; BAP1 immunostaining: HR 4.0, p=0.010).
|
25147369 |
2014 |
|
Monosomy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In uveal melanoma, monosomy 3 is the most common genetic alteration and somatic mutations of BAP1, a tumor suppressor gene, have been reported in nearly 50% of primary uveal melanomas.
|
22834783 |
2012 |