Associated Papers
RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
Diamond EL et al.
Cancer Cell, 2026
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.
Ebbelaar CF et al.
Ebiomedicine, 2025
Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.
Pai P et al.
Molecular Biotechnology, 2025
Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes.
Chen XD et al.
Science (new York, N.y.), 2024
Molecular characterization of Chinese patients with small bowel adenocarcinoma.
Jin B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2024
Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy.
Friedman JS et al.
British Journal of Haematology, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N et al.
Orphanet Journal of Rare Diseases, 2024
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Andrianova EP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.
Kemps PG et al.
Blood Advances, 2023
High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.
Mizuno S et al.
Molecular Cancer Therapeutics, 2023
Rosai-Dorfman Disease between Proliferation and Neoplasia.
Elbaz Younes I et al.
Cancers, 2022
Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.
Yang Y et al.
Journal of Cancer Research and Clinical Oncology, 2022
Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.
Xiang C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.
Scheiter A et al.
Journal of Personalized Medicine, 2022
Cutaneous epithelioid haemangiomas show somatic mutations in the mitogen-activated protein kinase pathway.
Maurus K et al.
The British Journal of Dermatology, 2022
From FOS fusions to somatic mutations in the MAPK pathway, heterogeneous genetic abnormalities cause distinct pathophysiology among subsets of epithelioid haemangiomas.
Tan W et al.
The British Journal of Dermatology, 2022
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.
Hamid AB et al.
Cancers, 2020
The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.
Costigan DC et al.
Genes, Chromosomes & Cancer, 2020
Genetic landscape of adult Langerhans cell histiocytosis with lung involvement.
Jouenne F et al.
The European Respiratory Journal, 2020
Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.
He CY et al.
Clinical and Translational Medicine, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
BRAF V600E Mutation: A Significant Biomarker for Prediction of Disease Relapse in Pediatric Langerhans Cell Histiocytosis.
Ozer E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Mutations in the RAS-BRAF-MAPK-ERK pathway define a specific subgroup of patients with adverse clinical features and provide new therapeutic options in chronic lymphocytic leukemia.
Giménez N et al.
Haematologica, 2019
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease.
Garces S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes.
Lee LH et al.
Jci Insight, 2017