For instance, monosomy of chromosome 3 and gain of 8q are often found in UMs., Multiple common driver mutations have also been identified in UM including BAP1 , EIF1AX
, GNA11 , GNAQ , and SF3B1 .,, Specifically, BAP1 , EIF1AX
, and SF3B1 mutations are mutually exclusive during UM progression, and BAP1 mutations showed the most significant association with UM metastasis. Meanwhile, epigenetic alteration such as changes in microRNAs and long ncRNAs also plays a role in the development and metastasis of UMs.,
(11) Other mutations, such as PTEN and EIF1AX
, serve as a marker of clonal neoplasm but alone are not sufficient for full cancer development.
In addition to TSHR mutations, commonly associated mutations include NRAS, HRAS, BRAF, and EIF1AX
Another paper describes the genomic situation of 496 PTCS: a low frequency of somatic alterations (relative to other carcinomas) and an extension of the set of known PTC driver alterations to include EIF1AX
, PPM1D, and CHEK2 and diverse gene fusions.
New driver mutations were identified in PTC, either entirely novel (EIF1AX
), or novel alterations of known drivers (RET, BRAF and ALK fusions) (Figure 1).
Molecular network including eIF1AX
, RPS7, and 14-3-3y regulates protein translation and cell proliferation in bovine mammary epithelial cells.
and contraction pathways Translation factors EIF3C, EIF4B, EIF3D, EIF1AX
, EIF4A2, et al.
Esta enfermedad se puede generar por herencia genetica o por radiacion, y se ven afectados genes como: RET, BRAF, RAS, EIF1AX
, PPM1D y CHEK2 y translocaciones que afectan PPARg, NTRK1, NTRK3, THADA y FGFR2, ademas de alteraciones moleculares como cadherina epitelial, molecula neural de adhesion celular (N-CAM), p-catenina, p53 y p63 [1,3].
Another mutation associated with good prognosis is the eukaryotic translation initiation factor 1A (EIF1AX
) gene mutation, which has been reported in 24% of uveal melanomas.
We also tested 5 housekeeping genes [LMNB1, lamin B1; EIF1AX
, eukaryotic translation initiation factor 1A, X-linked; CASC3 (also known as MLN51), cancer susceptibility candidate 3; PPIA; and PGK1, phosphoglycerate kinase 1] as endogenous controls (data not shown).
The genes analyzed for mutation are AKT1, BRAF, CTTNB1, GNAS, HRAS, KRAS, NRAS, PIK3CA, PTEN, RET, TP53, TSHR, TERT and EIF1AX
. The gene list for gene fusions and expression consists of RET, PPARG, NTRK1, NTRK3, ALK, IGF2BP3, BRAF, MET, CALCA, PTH, SLC5A5, TG, TTF1, KRT7 and KRT20.
(151) Various studies, however, are being undertaken and new PTC driver gene mutations such as EIF1AX
have been introduced, so that existence of PTC with no oncogenic driver is close to extinction.