Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

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

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New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B-cell precursor acute lymphoblastic leukaemia

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Convergent Mutations and Kinase Fusions Lead to Oncogenic STAT3 Activation in Anaplastic Large Cell Lymphoma

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Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study

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(2015) Michael Y Zhang et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

ATP binding to the pseudokinase domain of JAK2 is critical for pathogenic activation

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Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

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Targetable Kinase-Activating Lesions in Ph-like Acute Lymphoblastic Leukemia

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A novel recurrent NPM1-TYK2 gene fusion in cutaneous CD30-positive lymphoproliferative disorders

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Molecular characterization and clinical impact of t(11;15)(q23;q14-15) MLL-CASC5 rearrangement

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

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Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition

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A robust methodology to subclassify pseudokinases based on their nucleotide-binding properties

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Tyk2 is a therapeutic target for psoriasis-like skin inflammation

(2013) M. Ishizaki et al.   INTERNATIONAL IMMUNOLOGY

Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A

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Recurrent JAK1 and JAK3 somatic mutations in T-cell prolymphocytic leukemia

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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

(2013) Sohela Shah et al.   NATURE GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Multiple myeloma is affected by multiple and heterogeneous somatic mutations in adhesion- and receptor tyrosine kinase signaling molecules

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TYK2–STAT1–BCL2 Pathway Dependence in T-cell Acute Lymphoblastic Leukemia

(2013) Takaomi Sanda et al.   Cancer Discovery

Notch and PI3K: how is the road traveled?

(2012) W. Bailis et al.   BLOOD

Genetic Alterations Activating Kinase and Cytokine Receptor Signaling in High-Risk Acute Lymphoblastic Leukemia

(2012) Kathryn G. Roberts et al.   CANCER CELL

The significance of PTEN and AKT aberrations in pediatric T-cell acute lymphoblastic leukemia

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A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

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The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

(2012) Jinghui Zhang et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

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Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group

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Late Recurrence of Childhood T-Cell Acute Lymphoblastic Leukemia Frequently Represents a Second Leukemia Rather Than a Relapse: First Evidence for Genetic Predisposition

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Involvement of Tyrosine Kinase-2 in Both the IL-12/Th1 and IL-23/Th17 Axes In Vivo

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Genetic Variation in CACNA1C, a Gene Associated with Bipolar Disorder, Influences Brainstem Rather than Gray Matter Volume in Healthy Individuals

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Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia

(2010) R. C. Harvey et al.   BLOOD

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

(2010) Ramprasath Venkatachalam et al.   INTERNATIONAL JOURNAL OF CANCER

COT drives resistance to RAF inhibition through MAP kinase pathway reactivation

(2010) Cory M. Johannessen et al.   NATURE

PHF6 mutations in T-cell acute lymphoblastic leukemia

(2010) Pieter Van Vlierberghe et al.   NATURE GENETICS

A de novo paradigm for mental retardation

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Undifferentiated High-Grade Pleomorphic Sarcomas in Children: A Clinicopathologic Study of 10 Cases and Review of Literature

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High frequency of PTEN, PI3K, and AKT abnormalities in T-cell acute lymphoblastic leukemia

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JAK mutations in high-risk childhood acute lymphoblastic leukemia

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Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

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Activating mutations in ALK provide a therapeutic target in neuroblastoma

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