Associated Papers
Distinct and convergent effects of SF3B1 mutations in human breast cancer.
Bergman RE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41055979 (PubMed )
Supplement: pnas.2505374122.sapp.pdf
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
41406100 (PubMed )
Supplement: pone.0334361.s003.xlsx › SF3B1
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM5_ESM.xlsx › Non_-_truncating_variants
An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.
Biezuner T et al.
Nar Genomics and Bioinformatics, 2022
35156021 (PubMed )
Supplement: lqab125_supplemental_files.zip › Supplementary_Table_S1.xlsx › hotspots
Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.
Liu B et al.
The Journal of Clinical Investigation, 2021
Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.
Alsafadi S et al.
Oncogene, 2021
33057152 (PubMed )
Supplement: NIHMS1634320-supplement-2.pdf
Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.
Canbezdi C et al.
Computational and Structural Biotechnology Journal, 2021
33777335 (PubMed )
Supplement: mmc2.pdf
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature.
Park CH et al.
Laboratory Medicine, 2020
A comprehensive characterization of cis-acting splicing-associated variants in human cancer.
Shiraishi Y et al.
Genome Research, 2018
30012835 (PubMed )
Supplement: supp_gr.231951.117_Supplemental_Table_S4.xlsx › S4_SF_Mut
SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.
Tang Q et al.
Genes & Development, 2016
28087715 (PubMed )
Supplement: supp_30.24.2710_Supplemental_Material.pdf
Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing.
Patnaik MM et al.
American Journal of Hematology, 2016
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