Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

V Quesada, L Conde, N Villamor, GR Ordóñez… - Nature …, 2012 - nature.com
Here we perform whole-exome sequencing of samples from 105 individuals with chronic
lymphocytic leukemia (CLL),, the most frequent leukemia in adults in Western countries. We …

SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

L Wang, MS Lawrence, Y Wan… - … England Journal of …, 2011 - Mass Medical Soc
Background The somatic genetic basis of chronic lymphocytic leukemia, a common and
clinically heterogeneous leukemia occurring in adults, remains poorly understood. Methods …

SF3B1 mutations in chronic lymphocytic leukemia

Y Wan, CJ Wu - Blood, The Journal of the American Society of …, 2013 - ashpublications.org
SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of
introns from precursor messenger RNA (mRNA). Next-generation sequencing studies have …

[HTML][HTML] Transcriptomic characterization of SF3B1 mutation reveals its pleiotropic effects in chronic lymphocytic leukemia

L Wang, AN Brooks, J Fan, Y Wan, R Gambe, S Li… - Cancer cell, 2016 - cell.com
Mutations in SF3B1, which encodes a spliceosome component, are associated with poor
outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL …

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

D Rossi, A Bruscaggin, V Spina, S Rasi… - Blood, The Journal …, 2011 - ashpublications.org
The genetic lesions identified in chronic lymphocytic leukemia (CLL) do not entirely
recapitulate the disease pathogenesis and the development of serious complications, such …

[HTML][HTML] Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns

AD Tang, CM Soulette, MJ van Baren, K Hart… - Nature …, 2020 - nature.com
While splicing changes caused by somatic mutations in SF3B1 are known, identifying full-
length isoform changes may better elucidate the functional consequences of these …

The impact of SF3B1 mutations in CLL on the DNA-damage response

GD te Raa, IAM Derks, V Navrkalová, A Skowronska… - Leukemia, 2015 - nature.com
Mutations or deletions in TP53 or ATM are well-known determinants of poor prognosis in
chronic lymphocytic leukemia (CLL), but only account for approximately 40% of chemo …

[HTML][HTML] Chronic lymphocytic leukemia: molecular heterogeneity revealed by high-throughput genomics

DA Landau, CJ Wu - Genome medicine, 2013 - Springer
Chronic lymphocytic leukemia (CLL) has been consistently at the forefront of genetic
research owing to its prevalence and the accessibility of sample material. Recently, genome …

[HTML][HTML] A murine model of chronic lymphocytic leukemia based on B cell-restricted expression of Sf3b1 mutation and Atm deletion

S Yin, RG Gambe, J Sun, AZ Martinez, ZJ Cartun… - Cancer Cell, 2019 - cell.com
SF3B1 is recurrently mutated in chronic lymphocytic leukemia (CLL), but its role in the
pathogenesis of CLL remains elusive. Here, we show that conditional expression of Sf3b1 …

Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

V Ljungström, D Cortese, E Young… - Blood, The Journal …, 2016 - ashpublications.org
Fludarabine, cyclophosphamide, and rituximab (FCR) is first-line treatment of medically fit
chronic lymphocytic leukemia (CLL) patients; however, despite good response rates, many …