ArticleScientific reports2013
JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations.
Article in Scientific reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 67 citations in OpenAlex.
- Phase II Study of Avelumab in Patients With Mismatch Repair Deficient and Mismatch Repair Proficient Recurrent/Persistent Endometrial Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2019Trial
- Malignant JAK-signaling: at the interface of inflammation and malignant transformation.Leukemia · 2025Review
- JAK2 inactivating mutations promotes endometrial cancer progression by targeting HIF-1α.Discover oncology · 2024Article
- LATS1/2 loss promote tumor immune evasion in endometrial cancer through downregulating MHC-I expression.Journal of experimental & clinical cancer research : CR · 2024Article
- Integrating Clinical Cancer and PTM Proteomics Data Identifies a Mechanism of ACK1 Kinase Activation.Molecular cancer research : MCR · 2024Article
- The evolving role of immune checkpoint inhibitors in cervical and endometrial cancer.Cancer drug resistance (Alhambra, Calif.) · 2024Review
- JAK-STAT signaling in inflammation and stress-related diseases: implications for therapeutic interventions.Molecular biomedicine · 2023Review
- RETooling the RET Inhibitor Pralsetinib for ESR1 Fusion-Positive Breast Cancer and Beyond.Cancer research · 2023Article
- Efficacy, safety and biomarker analysis of durvalumab in patients with mismatch-repair deficient or microsatellite instability-high solid tumours.BMC cancer · 2023Article
- SPOP mutations promote tumor immune escape in endometrial cancer via the IRF1-PD-L1 axis.Cell death and differentiation · 2023Article
- Dysregulation in IFN-γ signaling and response: the barricade to tumor immunotherapy.Frontiers in immunology · 2023Review
- JAK1 inactivation promotes proliferation and migration of endometrial cancer cells via upregulating the hypoxia-inducible factor signaling pathway.Cell communication and signaling : CCS · 2022Article
- Discordant prognosis of mismatch repair deficiency in colorectal and endometrial cancer reflects variation in antitumour immune response and immune escape.The Journal of pathology · 2022Article
- JAK1: Number one in the family; number one in inflammation?Rheumatology (Oxford, England) · 2021Article
- miR-20a-5p inhibits endometrial cancer progression by targeting janus kinase 1.Oncology letters · 2021Article
- The Binary Classification of Protein Kinases.Journal of inflammation research · 2021Article
- Gynecological Cancers Caused by Deficient Mismatch Repair and Microsatellite Instability.Cancers · 2020Review
- Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.Cold Spring Harbor molecular case studies · 2020Article
- Immune disorder in endometrial cancer: Immunosuppressive microenvironment, mechanisms of immune evasion and immunotherapy.Oncology letters · 2020Review
- Molecular Structure and Function of Janus Kinases: Implications for the Development of Inhibitors.Journal of Crohn's & colitis · 2020Review
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Authors and funding
7 authors at 2 institutions in 1 country.
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Abstract
Cancer-associated protein tyrosine kinase (PTK) mutations usually are gain-of-function (GOF) mutations that drive tumor growth and metastasis. We have found 50 JAK1 truncating mutations in 36 of 635 gynecologic tumors in the Total Cancer Care® (TCC®) tumor bank. Among cancer cell lines containing JAK1 truncating mutations in the Cancer Cell Line Encyclopedia databank, 68% are gynecologic cancer cells. Within JAK1 the K142, P430, and K860 frame-shift mutations were identified as hot spot mutation sites. Sanger sequencing of cancer cell lines, primary tumors, and matched normal tissues confirmed the JAK1 mutations and showed that these mutations are somatic. JAK1 mediates interferon (IFN)-γ-regulated tumor immune surveillance. Functional assays show that JAK1 deficient cancer cells are defective in IFN-γ-induced LMP2 and TAP1 expression, loss of which inhibits presentation of tumor antigens. These findings identify recurrent JAK1 truncating mutations that could contribute to tumor immune evasion in gynecologic cancers, especially in endometrial cancer.
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