|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
In most cases, activating mutations in the Gα11/Q pathway drive uveal melanoma oncogenesis, whereas mutations in the BAP1, SF3B1 or EIF1AX genes predict progression towards metastasis.
|
31563544 |
2019 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
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 |
|
Neoplasm Metastasis
|
0.380 |
Biomarker
|
phenotype |
BEFREE |
These were the presence of gross chromosomal copy number changes and the presence of mutations in GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX; the presence of metastases and time period between diagnosis and death from melanoma; and correlation between the tumor genetic profile and the clinical behavior of the tumor.
|
30605742 |
2019 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
None of the tumors with only an EIF1AX mutation metastasized.
|
30073324 |
2018 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
Additional cytogenetic and genetic changes, however, including chromosome 3 monosomy, mutations in the BAP1 tumor suppressor gene, alterations in the splicing factors SRSF2/SF3B1, and mutations in the translation initiation factor EIF1AX, modulate signaling output in uveal tumors and modify the risk of metastases.
|
29738114 |
2018 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with tumors harboring EIF1AX mutations rarely demonstrated metastases (2 of 28 patients) and overall had a longer disease-free survival (DFS; 190.1 vs. 100.2 months; P < 0.001).
|
26923342 |
2016 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
|
24970262 |
2014 |
|
Neoplasm Metastasis
|
0.380 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in BAP1 are strongly associated with metastasis, whereas those in SF3B1 and EIF1AX are associated with good prognosis.
|
24713608 |
2014 |
|
Neoplasm Metastasis
|
0.380 |
Biomarker
|
phenotype |
CTD_human |
Proteomic analysis identifies candidate proteins associated with distant recurrences in breast cancer after adjuvant chemotherapy.
|
17085005 |
2007 |
|
Uveal melanoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, <i>EIF1AX</i> mutations altering the human eIF1A NTT are associated with uveal melanoma (UM).
|
29206102 |
2017 |
|
Uveal melanoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
BAP1, SF3B1, and EIF1AX mutations occur during UM tumor progression in an almost mutually exclusive manner and are associated with different levels of metastatic risk.
|
27123562 |
2016 |
|
Uveal melanoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Our finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level.
|
26769193 |
2016 |
|
Uveal melanoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients.
|
26923342 |
2016 |
|
Uveal melanoma
|
0.370 |
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
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that knowledge of mutations in BAP1 and EIF1AX can enhance prognostication of UM beyond that determined by chromosome 3 and tumor characteristics.
|
24970262 |
2014 |
|
Uveal melanoma
|
0.370 |
Biomarker
|
disease |
CTD_human |
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
|
23793026 |
2013 |
|
Uveal melanoma
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
|
23793026 |
2013 |
|
Papillary thyroid carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We exploited the MassARRAY (MA) genotyping platform to develop the "PTC-MA assay", which allows the simultaneous detection of 13 hotspot mutations, in the BRAF, KRAS, NRAS, HRAS, TERT, AKT1, PIK3CA, and EIF1AX genes, and six recurrent genetic rearrangements, involving the RET and TRK genes in papillary thyroid cancer (PTC).
|
29214440 |
2018 |
|
Papillary thyroid carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
All four carcinomas harbored A113_splice mutation and three of them had one or more coexisting mutations, typically RAS All PTC carrying EIF1AX mutations were encapsulated follicular variants.
|
26911375 |
2016 |
|
Papillary thyroid carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions.
|
25417114 |
2014 |
|
Papillary thyroid carcinoma
|
0.330 |
SomaticCausalMutation
|
disease |
ORPHANET |
We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions.
|
25417114 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
TERT, AKT1, PIK3CA, and EIF1AX were frequently co-mutated with driver genes (BRAF<sup>V600E</sup> and RAS) in advanced DTCs as well as ATC, but tumor suppressors (e.g., TP53 and CDKN2A) were predominantly altered in ATC.
|
31235699 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation in translation initiation factor EIF1AX (11%) and tumor suppressor TP53 (16%) have also been reported in PDTC.
|
30747050 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These were the presence of gross chromosomal copy number changes and the presence of mutations in GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX; the presence of metastases and time period between diagnosis and death from melanoma; and correlation between the tumor genetic profile and the clinical behavior of the tumor.
|
30605742 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
None of the tumors with only an EIF1AX mutation metastasized.
|
30073324 |
2018 |