Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia

De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways

(2019) Vera Magistroni et al.   HAEMATOLOGICA

Somatic variants in epigenetic modifiers can predict failure of response to imatinib but not to second generation tyrosine kinase inhibitors

(2019) Georgios Nteliopoulos et al.   HAEMATOLOGICA

Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 10 Years After Presentation

(2018) LISA-MADELEINE SKLARZ et al.   ANTICANCER RESEARCH

Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high risk disease

(2018) Susan Branford et al.   BLOOD

Frequent ASXL1 mutations in children and young adults with chronic myeloid leukemia

(2018) Thomas Ernst et al.   LEUKEMIA

BIM deletion polymorphism profiling complements prognostic values of risk scores in imatinib-treated Asian chronic myeloid leukemia patients

(2018) Hein Than et al.   LEUKEMIA & LYMPHOMA

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

(2018) Jesse J. Salk et al.   NATURE REVIEWS GENETICS

Molecular Minimal Residual Disease in Acute Myeloid Leukemia

(2018) Mojca Jongen-Lavrencic et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeted therapy for fusion-driven high-risk acute leukemia

(2018) Yana Pikman et al.   BLOOD

Chronic Myeloid Leukemia, Version 1.2019, NCCN Clinical Practice Guidelines in Oncology

(2018) Jerald P. Radich et al.   Journal of the National Comprehensive Cancer Network

Unusual location of a follicular lymphoma with features of pediatric-type follicular lymphoma

(2018) Christina Kanaan et al.   BLOOD

Classification and Personalized Prognosis in Myeloproliferative Neoplasms

(2018) Jacob Grinfeld et al.   NEW ENGLAND JOURNAL OF MEDICINE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia

(2017) Ivan Sloma et al.   EXPERIMENTAL HEMATOLOGY

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

(2017) Jennifer Kerkhof et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors

(2017) Julie W. Reeser et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

(2017) Marilyn M. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The MLL recombinome of acute leukemias in 2017

(2017) C Meyer et al.   LEUKEMIA

Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy

(2017) TaeHyung Kim et al.   LEUKEMIA RESEARCH

Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia

(2017) E Togasaki et al.   Blood Cancer Journal

OncoScore: a novel, Internet-based tool to assess the oncogenic potential of genes

(2017) Rocco Piazza et al.   Scientific Reports

ASXL1andJAK2V617Fgene mutation screening in Iranian patients with chronic myeloid leukemia

(2016) Amir Valikhani et al.   Asia-Pacific Journal of Clinical Oncology

Spectrum of somatic mutation dynamics in chronic myeloid leukemia following tyrosine kinase inhibitor therapy

(2016) TaeHyung Kim et al.   BLOOD

Somatic mosaicism in chronic myeloid leukemia in remission

(2016) K. Mitani et al.   BLOOD

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

(2016) Hartmut Döhner et al.   BLOOD

Risk stratification of chromosomal abnormalities in chronic myelogenous leukemia in the era of tyrosine kinase inhibitor therapy

(2016) W. Wang et al.   BLOOD

Incorporation of molecular data into the Revised International Prognostic Scoring System in treated patients with myelodysplastic syndromes

(2016) A Nazha et al.   LEUKEMIA

Complementary activities of DOT1L and Menin inhibitors in MLL-rearranged leukemia

(2016) C Dafflon et al.   LEUKEMIA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Towards precision medicine

(2016) Euan A. Ashley   NATURE REVIEWS GENETICS

Combined targeting of BCL-2 and BCR-ABL tyrosine kinase eradicates chronic myeloid leukemia stem cells

(2016) Bing Z. Carter et al.   Science Translational Medicine

Small Molecule Inhibitor of CBFβ-RUNX Binding for RUNX Transcription Factor Driven Cancers

(2016) Anuradha Illendula et al.   EBioMedicine

Targeting casein kinase II restores Ikaros tumor suppressor activity and demonstrates therapeutic efficacy in high-risk leukemia

(2015) C. Song et al.   BLOOD

Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia

(2015) Michelle L. Churchman et al.   CANCER CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Prognosis of long-term survival considering disease-specific death in patients with chronic myeloid leukemia

(2015) M Pfirrmann et al.   LEUKEMIA

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The Pfam protein families database: towards a more sustainable future

(2015) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

A small-molecule inhibitor of the aberrant transcription factor CBF -SMMHC delays leukemia in mice

(2015) A. Illendula et al.   SCIENCE

Discovery of somatic mutations in the progression of chronic myeloid leukemia by whole-exome sequencing

(2014) Y. Huang et al.   GENETICS AND MOLECULAR RESEARCH

Molecular-defined clonal evolution in patients with chronic myeloid leukemia independent of the BCR-ABL status

(2014) M Schmidt et al.   LEUKEMIA

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

The InterPro protein families database: the classification resource after 15 years

(2014) Alex Mitchell et al.   NUCLEIC ACIDS RESEARCH

European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013

(2013) M. Baccarani et al.   BLOOD

Unraveling the complexity of tyrosine kinase inhibitor-resistant populations by ultra-deep sequencing of the BCR-ABL kinase domain

(2013) S. Soverini et al.   BLOOD

What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer

(2013) J.-A. Losman et al.   GENES & DEVELOPMENT

ASXL1, TP53 and IKZF3 mutations are present in the chronic phase and blast crisis of chronic myeloid leukemia

(2013) J Menezes et al.   Blood Cancer Journal

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

(2012) John S. Welch et al.   CELL

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

NPM1 mutations occur rarely or not at all in chronic myeloid leukaemia patients in chronic phase or blast crisis

(2012) D B Watkins et al.   LEUKEMIA

Molecular characterization ofde novoPhiladelphia chromosome-positive acute myeloid leukemia

(2012) Sergej Konoplev et al.   LEUKEMIA & LYMPHOMA

Clonal evolution of acute leukemia genomes

(2012) M Jan et al.   ONCOGENE

BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet

(2011) S. Soverini et al.   BLOOD

CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

(2011) H. Makishima et al.   BLOOD

Predicting complete cytogenetic response and subsequent progression-free survival in 2060 patients with CML on imatinib treatment: the EUTOS score

(2011) J. Hasford et al.   BLOOD

Sensitive Detection ofBCR-ABL1Mutations in Patients With Chronic Myeloid Leukemia After Imatinib Resistance Is Predictive of Outcome During Subsequent Therapy

(2011) Wendy T. Parker et al.   JOURNAL OF CLINICAL ONCOLOGY

Mutation analysis of TET2, IDH1, IDH2 and ASXL1 in chronic myeloid leukemia

(2011) C Roche-Lestienne et al.   LEUKEMIA

A deep-sequencing study of chronic myeloid leukemia patients in blast crisis (BC-CML) detects mutations in 76.9% of cases

(2011) V Grossmann et al.   LEUKEMIA

neXtProt: a knowledge platform for human proteins

(2011) L. Lane et al.   NUCLEIC ACIDS RESEARCH

IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis

(2010) S Soverini et al.   LEUKEMIA

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

(2010) J Boultwood et al.   LEUKEMIA

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Selecting optimal second-line tyrosine kinase inhibitor therapy for chronic myeloid leukemia patients after imatinib failure: does the BCR-ABL mutation status really matter?

(2009) S. Branford et al.   BLOOD

A gene expression signature of CD34+ cells to predict major cytogenetic response in chronic-phase chronic myeloid leukemia patients treated with imatinib

(2009) S. K. McWeeney et al.   BLOOD

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Cytoplasmic mutated nucleophosmin (NPM1) in blast crisis of chronic myeloid leukaemia

(2009) P P Piccaluga et al.   LEUKEMIA

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

(2008) C. Roche-Lestienne et al.   BLOOD

BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros

(2008) Charles G. Mullighan et al.   NATURE

Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia

(2008) S.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA