|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival.
|
22158541 |
2011 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
Biomarker
|
disease |
CTD_human |
Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival.
|
22158541 |
2011 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of SF3B1 mutations points to splicing regulation as a novel pathogenetic mechanism of potential clinical relevance in CLL.
|
22039264 |
2011 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).
|
22200771 |
2011 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations occurred primarily in tumors with deletions in chromosome 11q, which are associated with a poor prognosis in patients with chronic lymphocytic leukemia.
|
22150006 |
2011 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype associations have been demonstrated for one of these mutations, SF3B1, with ring sideroblasts in MDS and 11q22 deletions in CLL.
|
22484420 |
2012 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, SF3B1 mutations have a lower incidence in early stages of chronic lymphocytic leukemia, are more common in advanced disease, and tend to be associated with poor prognosis, suggesting that they occur during clonal evolution of the disease.
|
23160465 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the causative link between SF3B1 mutation and CLL pathogenesis remains unclear, several lines of evidence suggest SF3B1 mutation might be linked to genomic stability and epigenetic modification.
|
23568491 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We studied the incidences, associations, and prognostic roles of NOTCH1 and SF3B1 mutations (NOTCH1(mut), SF3B1(mut)) as compared with TP53(mut) in fludarabine-refractory chronic lymphocytic leukemia (CLL) patients treated with alemtuzumab in the CLL2H trial.
|
23821658 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia.
|
23395771 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this analysis was to provide 6-year follow-up of the CLL3X trial, which studied reduced-intensity allogeneic hematopoietic stem cell transplantation (HSCT) in patients with poor-risk chronic lymphocytic leukemia (CLL), and to investigate the effect of TP53, SF3B1, and NOTCH1 mutations on HSCT outcome.
|
23435461 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We sequentially sampled a large well-characterized CLL cohort at a mean of 4 years between samplings and measured acquired copy number aberrations (aCNA) and LOH using single-nucleotide polymorphism (SNP) 6.0 array profiling and the mutational state of TP53, NOTCH1, and SF3B1 using Sanger sequencing.
|
23620403 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations are the genetic hallmark of IGHV3-21-CLL belonging to subset 2 (52%) but are evenly represented in nonstereotyped IGHV3-21-CLL.
|
23637131 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified driver mutations as predominantly clonal (e.g., MYD88, trisomy 12, and del(13q)) or subclonal (e.g., SF3B1 and TP53), corresponding to earlier and later events in CLL evolution.
|
23415222 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2.
|
23558524 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the frequency of SF3B1 mutations is significantly higher in chemotherapy treated than in untreated patients with CLL, suggesting that chemotherapy induces SF3B1 gene mutations or selects a population of mutated cells.
|
23270583 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NOTCH1 and SF3B1 mutations have been previously reported to have prognostic significance in chronic lymphocytic leukemia but to date they have not been validated in a prospective, controlled clinical trial.
|
23086750 |
2013 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, TP53 and SF3B1 mutations appear among the strongest prognostic markers in CLL patients receiving current-standard first-line therapy.
|
24652989 |
2014 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening of recurrently mutated genes in 48 additional FR-CLLs revealed that ~70% of FR-CLLs carry ≥1 mutation in genes previously associated with CLL clinical course, including TP53 (27.5%), NOTCH1 (24.1%), SF3B1 (18.9%), and BIRC3 (15.5%).
|
24550227 |
2014 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The impact of SF3B1 mutations in CLL on the DNA-damage response.
|
25371178 |
2015 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melanoma tumor samples, we show that hundreds of cryptic 3' splice sites (3'SSs) are used in cancers with SF3B1 mutations.
|
25768983 |
2015 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biological and clinical associations were detected including SF3B1 and NOTCH1 mutations with un-mutated IGHV, MYD88 mutations with mutated IGHV, SF3B1 mutations with fludarabine-resistant CLL and NOTCH1 mutation with advanced Binet disease stage and with +12.
|
25605254 |
2015 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%).
|
24943832 |
2015 |
|
Chronic Lymphocytic Leukemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL), including its association with newly reported MYD88, BIRC3, NOTCH1 and SF3B1 mutations.
|
24943833 |
2015 |