Associated Papers
Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.
Onyia AF et al.
Cancer Genetics, 2026
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Allogeneic Hematopoietic Stem Cell Transplant for an Unknown Inherited Bone Marrow Failure Syndrome With a Novel Compound Heterozygous Mutation.
Okeleji O et al.
Pediatric Blood & Cancer, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
Targeted Sequencing of HER2-Positive Breast Cancer Mutations Revealed a Potential Association between PIK3CA and Trastuzumab Resistance.
Mekhamer AM et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma [SHiGDA] and Right-Sided JAK3 Colon Mutations May Explain the Presence of Multiple Cancers Revealing an Important Minority of Patients with JAK3 Mutations and Colorectal Neoplasia.
Tobi M et al.
Gastrointestinal Disorders (basel, Switzerland), 2024
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
Tsilifis C et al.
Journal of Clinical Immunology, 2024
The Role of BRAF Inhibitors in the Management of Ameloblastoma: A Literature Review.
Malakar A et al.
Cureus, 2023
PRAME Immunohistochemical Expression and TERT Promoter Mutational Analysis as Ancillary Diagnostic Tools for Differentiating Proliferative Nodules From Melanoma Arising in Congenital Nevi.
Boutko A et al.
The American Journal of Dermatopathology, 2023
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.
Wang X et al.
Human Mutation, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Peripancreatic paraganglioma: Lesson from a round table.
Petrelli F et al.
World Journal of Gastroenterology, 2022
Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.
Messaoudi SA et al.
Biomedical Reports, 2022
Phase 1, pharmacogenomic, dose-expansion study of pegargiminase plus pemetrexed and cisplatin in patients with ASS1-deficient non-squamous non-small cell lung cancer.
Szlosarek PW et al.
Cancer Medicine, 2021
Current concepts in ameloblastoma-targeted therapies in B-raf proto-oncogene serine/threonine kinase V600E mutation: Systematic review.
González-González R et al.
World Journal of Clinical Oncology, 2020
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.
Labuhn M et al.
Cancer Cell, 2019
JAK3 Variant, Immune Signatures, DNA Methylation, and Social Determinants Linked to Survival Racial Disparities in Head and Neck Cancer Patients.
Guerrero-Preston R et al.
Cancer Prevention Research (philadelphia, Pa.), 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
Graft versus host disease and microchimerism in a JAK3 deficient patient.
Shahbazi Z et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
First-in human, phase 1, dose-escalation pharmacokinetic and pharmacodynamic study of the oral dual PI3K and mTORC1/2 inhibitor PQR309 in patients with advanced solid tumors (SAKK 67/13).
Wicki A et al.
European Journal of Cancer (oxford, England : 1990), 2018
Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.
Li SD et al.
Genome Medicine, 2017
p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.
Eder-Azanza L et al.
Haematologica, 2017
Transforming Mutations of Jak3 (A573V and M511I) Show Differential Sensitivity to Selective Jak3 Inhibitors.
Martinez GS et al.
Clinical Cancer Drugs, 2016
Long-term Benefit of PD-L1 Blockade in Lung Cancer Associated with JAK3 Activation.
Van Allen EM et al.
Cancer Immunology Research, 2015
Activating FGFR2-RAS-BRAF mutations in ameloblastoma.
Brown NA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
MacConaill LE et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma.
Koo GC et al.
Cancer Discovery, 2012
FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.
Elliott NE et al.
Blood, 2011
Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects.
Riera L et al.
Leukemia & Lymphoma, 2011
Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.
Deshpande V et al.
Bmc Cancer, 2011
Array-based genomic resequencing of human leukemia.
Yamashita Y et al.
Oncogene, 2010
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes.
Aranaz P et al.
Cancer Genetics and Cytogenetics, 2010
Profiling critical cancer gene mutations in clinical tumor samples.
MacConaill LE et al.
Plos One, 2009
JAKs in pathology: role of Janus kinases in hematopoietic malignancies and immunodeficiencies.
Vainchenker W et al.
Seminars in Cell & Developmental Biology, 2008
Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers.
Jeong EG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
Tomasson MH et al.
Blood, 2008
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
Sato T et al.
British Journal of Haematology, 2008
Mining for JAK-STAT mutations in cancer.
Constantinescu SN et al.
Trends in Biochemical Sciences, 2008
Oncogenes in myeloproliferative disorders.
Tefferi A et al.
Cell Cycle (georgetown, Tex.), 2007
Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia.
Tyybäkinoja A et al.
Leukemia, 2007
Activating alleles of JAK3 in acute megakaryoblastic leukemia.
Walters DK et al.
Cancer Cell, 2006