2014
DOI: 10.1002/path.4483
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SF3B1 mutations constitute a novel therapeutic target in breast cancer

Abstract: Mutations in genes encoding proteins involved in RNA splicing have been found to occur at relatively high frequencies in several tumour types including myelodysplastic syndromes, chronic lymphocytic leukaemia, uveal melanoma, and pancreatic cancer, and at lower frequencies in breast cancer. To investigate whether dysfunction in RNA splicing is implicated in the pathogenesis of breast cancer, we performed a re-analysis of published exome and whole genome sequencing data. This analysis revealed that mutations in… Show more

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Cited by 168 publications
(163 citation statements)
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“…2G). SF3B1 , an RNA splicing factor, was mutated in 4.6% of cases, at mutation hotspots (23% at codon 625 and 14% at codon 700) previously observed in uveal melanoma and breast cancer (18,19) (Fig. 2H).…”
Section: Resultsmentioning
confidence: 52%
“…2G). SF3B1 , an RNA splicing factor, was mutated in 4.6% of cases, at mutation hotspots (23% at codon 625 and 14% at codon 700) previously observed in uveal melanoma and breast cancer (18,19) (Fig. 2H).…”
Section: Resultsmentioning
confidence: 52%
“…4, 5 Recent groundbreaking discoveries have identified recurrent mutations in SF3B1 (and/or other splicing factors) in multiple forms of cancer including: myelodysplastic syndromes (MDS), 14,28 chronic lymphocytic leukemia (CLL), 29 acute myeloid leukemia (AML), 30,31 breast cancer, 32, 33 lung adenosarcoma, 34 and uveal melanoma. 35 These genetic studies have also fueled complementary research in the therapeutic significance of spliceosome recurrent mutations.…”
Section: Introductionmentioning
confidence: 99%
“…The somatic mutations of the SF3B1 gene are particularly prevalent among patients with RARS (50–75% frequencies) [2, 8], uveal melanoma (15–20% frequencies) [10, 11, 47], and CLL (~15% frequency) [5, 6]. SF3B1 mutations also recur among pancreatic or breast cancers (2–4% frequencies) [1215, 48]. Major hotspots for cancer-relevant SF3B1 mutations are located on the fifth to eighth sequence repeats of the protein, which structures map to the fourth to seventh α-helical “HEAT” repeats (HR) (Figure 1A).…”
Section: Cancer-relevant Sf3b1 Mutations Promote Cryptic 3′ Splice Simentioning
confidence: 99%