L
Leire Escudero-Ibarz
Researcher at University of Cambridge
Publications - 8
Citations - 331
Leire Escudero-Ibarz is an academic researcher from University of Cambridge. The author has contributed to research in topics: Exome & Lymphoma. The author has an hindex of 4, co-authored 6 publications receiving 267 citations.
Papers
More filters
Journal ArticleDOI
Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma
Jessica Okosun,Rachel L. Wolfson,Jun Wang,Shamzah Araf,Lucy Wilkins,Brian M. Castellano,Leire Escudero-Ibarz,Ahad F. Al Seraihi,Julia Richter,Stephan H. Bernhart,Alejo Efeyan,Sameena Iqbal,Janet Matthews,Andrew Clear,José Afonso Guerra-Assunção,Csaba Bödör,Hilmar Quentmeier,Christopher Mansbridge,Peter Johnson,Andrew Davies,Jonathan C. Strefford,Graham Packham,Sharon Barrans,Andrew Jack,Ming-Qing Du,Maria Calaminici,T. Andrew Lister,Rebecca Auer,Silvia Montoto,John G. Gribben,Reiner Siebert,Claude Chelala,Roberto Zoncu,David M. Sabatini,Jude Fitzgibbon +34 more
TL;DR: The activating nature of the RRAGC mutations, their existence in the dominant clone and their stability during disease progression support their potential as an excellent candidate for therapeutic targeting.
Journal ArticleDOI
KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.
Alexandra Clipson,Michael Wang,L. de Leval,Margaret Ashton-Key,A C Wotherspoon,George S. Vassiliou,Niccolo Bolli,Carolyn Grove,Sarah Moody,Leire Escudero-Ibarz,Gunes Gundem,Kim Brügger,Xuemin Xue,E Mi,A Bench,Michael A. Scott,Hongxiang Liu,George A Follows,Eloy F. Robles,Jose A. Martinez-Climent,David Oscier,A. J Watkins,Ming-Qing Du +22 more
TL;DR: KLF2 mutation is the most common genetic change in SMZL and identifies a subset with a distinct genotype characterised by multi-genetic changes that may deregulate various signalling pathways and generate cooperative oncogenic properties, thereby contributing to lymphomagenesis.
Journal ArticleDOI
Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4-34 usage in mucosa-associated lymphoid tissue lymphoma.
Sarah Moody,Leire Escudero-Ibarz,Ming Wang,Alexandra Clipson,Eguzkine Ochoa Ruiz,Deborah K. Dunn-Walters,Xuemin Xue,Naiyan Zeng,Alistair Robson,Shih-Sung Chuang,Sergio Cogliatti,Hongxiang Liu,John R. Goodlad,Margaret Ashton-Key,Markus Raderer,Yingwen Bi,Yingwen Bi,Ming-Qing Du,Ming-Qing Du +18 more
TL;DR: A significant association is shown between biased usage of autoreactive IGHV and somatic mutation of NF‐κB regulators in MALT lymphoma, arguing for their cooperation in sustaining chronic B‐cell receptor signalling and driving oncogenesis in lymphoma development.
Journal ArticleDOI
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing
Ming Wang,Leire Escudero-Ibarz,Sarah Moody,Naiyan Zeng,Alexandra Clipson,Yuanxue Huang,Xuemin Xue,Nicholas Francis Grigoropoulos,Sharon Barrans,Lisa Worrillow,Tim Forshew,Jing Su,Andrew E. Firth,Howard Martin,Andrew Jack,Kim Brügger,Ming-Qing Du +16 more
TL;DR: A robust practical approach for high-throughput mutation screening using archival FFPE tissues is established and most false-positive variants were due to DNA degradation, deamination, and Taq polymerase errors, but they were nonreproducible and could be efficiently eliminated by duplicate experiments.
Journal ArticleDOI
Significant functional difference between TNFAIP3 truncation and missense mutants.
TL;DR: A20, encoded by TNFAIP3, is a molecular “brake” of the canonical NF-κB activation pathway and attenuates the NF-kB activity triggered by a number of surface receptors and possesses deubiquitinating activity.