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SF3B1 mutations constitute a novel therapeutic target in breast cancer
The Journal of pathology, 2015-03, Vol.235 (4), p.571-580
Maguire, Sarah L
Leonidou, Andri
Wai, Patty
Marchiò, Caterina
Ng, Charlotte KY
Sapino, Anna
Salomon, Anne-Vincent
Reis-Filho, Jorge S
Weigelt, Britta
Natrajan, Rachael C
2015
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Maguire, Sarah L
Leonidou, Andri
Wai, Patty
Marchiò, Caterina
Ng, Charlotte KY
Sapino, Anna
Salomon, Anne-Vincent
Reis-Filho, Jorge S
Weigelt, Britta
Natrajan, Rachael C
Titel
SF3B1 mutations constitute a novel therapeutic target in breast cancer
Ist Teil von
The Journal of pathology, 2015-03, Vol.235 (4), p.571-580
Ort / Verlag
Chichester, UK: John Wiley & Sons, Ltd
Erscheinungsjahr
2015
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
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 spliceosomal component genes occurred in 5.6% of unselected breast cancers, including hotspot mutations in the SF3B1 gene, which were found in 1.8% of unselected breast cancers. SF3B1 mutations were significantly associated with ER‐positive disease, AKT1 mutations, and distinct copy number alterations. Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation. RNA sequencing identified differentially spliced events expressed in tumours with SF3B1 mutations including the protein coding genes TMEM14C, RPL31, DYNL11, UQCC, and ABCC5, and the long non‐coding RNA CRNDE. Moreover, SF3B1 mutant cell lines were found to be sensitive to the SF3b complex inhibitor spliceostatin A and treatment resulted in perturbation of the splicing signature. Albeit rare, SF3B1 mutations result in alternative splicing events, and may constitute drivers and a novel therapeutic target in a subset of breast cancers. © 2014 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
Sprache
Englisch
Identifikatoren
ISSN: 0022-3417
eISSN: 1096-9896
DOI: 10.1002/path.4483
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4643177
Format
–
Schlagworte
Adenocarcinoma, Mucinous - drug therapy
,
Adenocarcinoma, Mucinous - genetics
,
Adenocarcinoma, Mucinous - metabolism
,
Adenocarcinoma, Mucinous - pathology
,
alternative splicing
,
Alternative Splicing - drug effects
,
Alternative Splicing - genetics
,
Antineoplastic Agents - pharmacology
,
Breast cancer
,
Breast Neoplasms - drug therapy
,
Breast Neoplasms - genetics
,
Breast Neoplasms - metabolism
,
Breast Neoplasms - pathology
,
Carcinoma, Papillary - drug therapy
,
Carcinoma, Papillary - genetics
,
Carcinoma, Papillary - metabolism
,
Carcinoma, Papillary - pathology
,
Cell Line, Tumor
,
Cell Survival - drug effects
,
Dose-Response Relationship, Drug
,
drivers
,
Female
,
Gene Expression Regulation, Neoplastic
,
Genetic Predisposition to Disease
,
Humans
,
Molecular Targeted Therapy
,
Mutation
,
next-generation sequencing
,
Original Papers
,
Phenotype
,
Phosphoproteins - antagonists & inhibitors
,
Phosphoproteins - genetics
,
Phosphoproteins - metabolism
,
Pyrans - pharmacology
,
Receptors, Estrogen - metabolism
,
Ribonucleoprotein, U2 Small Nuclear - antagonists & inhibitors
,
Ribonucleoprotein, U2 Small Nuclear - genetics
,
Ribonucleoprotein, U2 Small Nuclear - metabolism
,
RNA Interference
,
RNA Splicing Factors
,
SF3B1
,
Spiro Compounds - pharmacology
,
spliceostatin A
,
Transfection
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