Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The mutations in GNAQ, GNA11 and EIF1AX were not associated with metastasis, whereas SF3B1 mutations were correlated with low risk of metastasis and demonstrated a protective effect in UM patients in China.
|
31614358 |
2019 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This suggests that the R625 missense SF3B1 mutations and SRSF2 mutations in UM are different compared to the spliceosome gene mutations in hematological cancers, and probably target a different, as yet unknown, set of genes involved in uveal melanoma etiology.
|
31426461 |
2019 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
The role of SF3B1 gene is unclear at this time but may be related to the development of late metastases among disomy 3 uveal melanoma.
|
28257297 |
2017 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1.
|
26683228 |
2016 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Frequent mutations have been described in the following 5 genes in uveal melanoma (UM): BAP1, EIF1AX, GNA11, GNAQ, and SF3B1.
|
27123562 |
2016 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients.
|
26923342 |
2016 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of SF3B1 has been identified in low-grade uveal melanoma with a good prognosis.
|
26086698 |
2015 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 missense mutations were found in the two UMs with no BAP1 mutations.
|
25361747 |
2015 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our finding of the frameshift deletion (p.H387fs) in exon 4 of SOX10 in UM provides an important insight and complements earlier findings of mutations in GNAQ and SF3B1 on the genomic basis of UM.
|
24927141 |
2014 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
CTD_human |
Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
|
23313955 |
2013 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations are associated with alternative splicing in uveal melanoma.
|
23861464 |
2013 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Exon 14 of SF3B1, containing the site of recurrent mutations described in uveal melanoma, was sequenced in all samples.
|
23694694 |
2013 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
ORPHANET |
Genomic, prognostic, and cell-signaling advances in uveal melanoma.
|
23714557 |
2013 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
CTD_human |
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
|
23793026 |
2013 |
Uveal melanoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
|
23793026 |
2013 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
|
23313955 |
2013 |
Uveal melanoma
|
0.600 |
Biomarker
|
disease |
ORPHANET |
We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing.
|
23861464 |
2013 |