|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we identified DDX41 variants in Thai patients with myeloid malignancies in which these variants could be used to assess predisposition to MDS in Southeast Asia.
|
31713024 |
2020 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Splicing factor 3B subunit 1 (SF3B1) is a complex takes part in intron splicing of pre-mRNA and mutations within it have been reported frequently in myeloid malignancies including myelodysplastic syndromes (MDS).
|
31812130 |
2020 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our results implicate the disruption of non-canonical BAF in the diverse cancer types that carry SF3B1 mutations and suggest a mechanism-based therapeutic approach for treating these malignancies.
|
31597964 |
2019 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Attention has recently shifted to the role of altered RNA splicing in cancer; driver mutations that lead to transcriptome-wide aberrant splicing have been identified in multiple types of cancer, although these mutations have only been found in protein-coding splicing factors such as splicing factor 3b subunit 1 (SF3B1)<sup>3-6</sup>.
|
31597163 |
2019 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
SF3B1 is the most frequently mutated splicing factor in cancer.
|
31634348 |
2019 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cancer-associated mutations in the spliceosome gene SF3B1 create a neomorphic protein that produces aberrant mRNA splicing in hundreds of genes, but the ensuing biologic and therapeutic consequences of this missplicing are not well understood.
|
31393856 |
2019 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
There is considerable interest in the compound as a tool to study SF3b1 function in cancer.
|
30963795 |
2019 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Inhibitors of SF3B1 are currently in development for cancer and have been found to be nontoxic to normal cells compared to malignant cells.
|
30401776 |
2018 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Next-generation sequencing technology identified somatic mutations in deleted in colorectal cancer (DCC), mixed lineage leukemia protein 3 (MLL3), and splicing factor 3B subunit 1 (SF3B1) genes in NMC cells from both primitive cancer and metastases.
|
28967088 |
2017 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations in human SF3b1 have been linked to many diseases such as myelodysplasia (MDS) and cancer.
|
28062854 |
2017 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Metaphase cytogenetics (MC) karyotyping is a fundamental way to approach cytogenetic pathogenesis of MDS-related myeloid malignancies.
|
28394181 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Clinical and SF3B1 mutation data from The Cancer Genome Atlas were analyzed.
|
29383138 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Intriguingly, mutations in SF3B1 have also been associated with several distinct types of cancer.
|
28445500 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively).
|
28409567 |
2017 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Important links exist between the process of pre-mRNA splicing and cancer, as illustrated by the frequent mutation of splicing factors in tumors and the emergence of various families of antitumor drugs that target components of the splicing machinery, notably SF3B1, a protein subunit of spliceosomal U2 small nuclear ribonucleoprotein particle (snRNP).
|
28103691 |
2017 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Gene-focused analysis with the ActiveDriver method reveals significant co-occurrences of acetylation and ubiquitination PTMs and mutation hotspots in known oncoproteins (TP53, AKT1, IDH1) and highlights candidate cancer driver genes with PTM-related mechanisms (e.g. several histone proteins and the splicing factor SF3B1).
|
27175787 |
2016 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Altogether, this study provides a better understanding of the mechanisms underlying splicing alterations induced by mutant SF3B1 in cancer, and reveals a role for alternative branchpoints in disease.
|
26842708 |
2016 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These findings ascribe functional significance to the consequences of SF3B1 mutations in cancer.
|
26565915 |
2015 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the splicing factor SF3B1 are found in several cancer types and have been associated with various splicing defects.
|
25768983 |
2015 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In the present study, the mutational profile of the Tet methylcytosine dioxygenase 2 (TET2), the isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2), the serine/arginine-rich splicing factor 2 (SRSF2), the splicing factor 3b subunit 1 (SF3B1), the Kirsten rat sarcoma viral oncogene homolog (KRAS) and the neuroblastoma RAS viral oncogene homolog (NRAS), commonly mutated in human myeloid malignancies and mastocytosis, was investigated in canine MCTs.
|
26562302 |
2015 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
This novel function of FIR splicing will contribute to clinical studies of cancer management through elucidating the mechanical interaction of FIR/FIRΔexon2/SAP155 as a potential target for cancer treatment.
|
24811221 |
2014 |
|
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A flurry of recent reports has revealed that genes encoding splicing factors, including the drug target splicing factor 3B subunit 1 (SF3B1), are among the most highly mutated in various haematological malignancies such as chronic lymphocytic leukaemia and myelodysplastic syndromes.
|
23123942 |
2012 |
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.
|
22150006 |
2011 |
|
Malignant Neoplasms
|
0.400 |
CausalMutation
|
group |
CGI |
|
|
|