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BIOMARKER:

GNA11 mutation

i
Other names: G Protein Subunit Alpha 11, Guanine Nucleotide Binding Protein (G Protein) Alpha 11 (Gq Class), Guanine Nucleotide-Binding Protein G(Y) Subunit Alpha, Guanine Nucleotide-Binding Protein Subunit Alpha-11, G Alpha-11, Hypocalciuric Hypercalcemia 2, G-Protein Subunit Alpha-11, GNA-11, HYPOC2, FBH2, FHH2, HHC2, GA11, FBH
Entrez ID:
Related biomarkers:
10d
Novel Glial Cells Missing-2 (GCM2) Variants in Parathyroid Disorders. (PubMed, Eur J Endocrinol)
We provide evidence that 2 novel GCM2 R67C inactivating mutations with inability to bind DNA are causative of hypoparathyroidism. Additionally, we provide evidence that two novel GCM2 variants increased transactivation of the PTH promoter in vitro and are associated with FIHP. Furthermore, our studies suggest that activating GCM2 variants may contribute to facilitating more aggressive parathyroid disease.
Journal
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GNA11 (G Protein Subunit Alpha 11) • CDKN1B (Cyclin dependent kinase inhibitor 1B)
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GNA11 mutation
23d
New trial
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GNA11 (G Protein Subunit Alpha 11)
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GNA11 mutation
2ms
Promoter-driven overexpression in Chromobacterium vaccinii facilitates access to FR900359 and yields novel low abundance analogs. (PubMed, Chemistry)
Thereby, the isolation and structure elucidation of novel FR analogs of low abundance is enabled. Further, we explore the antiproliferative activities of fifteen chromodepsins against uveal melanoma cell lines harboring Gq/11 mutations and characterize the major metabolite of FR formed in plasma.
Journal
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
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FR900359
2ms
Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma. (PubMed, Cancers (Basel))
Interestingly, Met-to-Death was longer in patients with GNAQ Q209P compared to GNAQ/GNA11 Q209L mutations, suggesting the difference in mutation type in GNAQ/GNA11 might determine the prognosis of MUM. Structural alterations of the GNAQ/GNA11 protein and their impact on survival of MUM patients should be further investigated.
Journal
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GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
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GNAQ mutation • GNA11 mutation • SF3B1 mutation • BAP1 mutation • GNAQ Q209L • GNAQ Q209P • MET mutation • PBRM1 mutation • GNA11 Q209L
3ms
GNA11 Mutation in an Intracranial Melanocytoma with Orbital Involvement and Nevus of Ota. (PubMed, Ophthalmic Plast Reconstr Surg)
One year later, intracranial extension of the melanocytoma necessitated a ventriculoperitoneal shunt and immunotherapy. Future work is needed to determine how GNA11 mutations in melanocytomas influence prognosis and monitoring strategies.
Journal • IO biomarker
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNA11 mutation • GNAQ Q209L • GNA11 Q209L
4ms
Primary sellar melanocytoma. (PubMed, Pituitary)
Genetic analyses can help differentiate between central nervous system origin and metastasis of a cutaneous melanoma with the presence of a GNAQ and GNA11 mutations or a BRAF mutation, respectively. First choice treatment is complete resection, and in case of incomplete resection or recurrence additional radiotherapy is advised.
Review • Journal
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BRAF (B-raf proto-oncogene) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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BRAF mutation • GNAQ mutation • GNA11 mutation
5ms
Testing Trametinib as a Potential Targeted Treatment in Cancers With GNAQ or GNA11 Genetic Changes (MATCH-Subprotocol S2) (clinicaltrials.gov)
P2, N=35, Active, not recruiting, National Cancer Institute (NCI) | Trial primary completion date: Sep 2020 --> Jan 2022
Clinical • Trial primary completion date
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
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Mekinist (trametinib)
6ms
Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA. (PubMed, Cancer Med)
Detection of ctDNA in plasma can provide a diagnostic lead time over the clinical diagnosis of metastases or tumor recurrence. Longer lead times are to be expected if intervals between sampling are shortened.
Journal
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
9ms
[VIRTUAL] Spinal meningeal melanocytoma in association with giant blue nevus (EADO-WCM 2021)
Associations between large melanocytic nevi and neurocutaneous melanosis have been described, though are considered relatively rare. In our patient, the skin lesion was diagnosed on pathology examination as a benign blue nevus, with distinctive histological and immunohistochemical features, thus ruling out primary as well as metastatic melanoma. Lesion’s size and clinical appearance were outstanding, making the extremely large nevus a peculiar finding itself.
IO biomarker
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
11ms
[VIRTUAL] Identification of essential proliferation and trametinib resistance mechanisms in GNAQ-mutant uveal melanoma (AACR 2021)
These results identify novel mechanisms of proliferation and therapy resistance specifically required in UM cells that may represent new therapeutic targets.
TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • GNAQ (G Protein Subunit Alpha Q) • NF1 (Neurofibromin 1) • GNA11 (G Protein Subunit Alpha 11) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • SOX10 (SRY-Box 10) • HDAC1 (Histone Deacetylase 1) • MITF (Melanocyte Inducing Transcription Factor) • SETDB1 (SET Domain Bifurcated Histone Lysine Methyltransferase 1)
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GNAQ mutation • GNA11 mutation
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Mekinist (trametinib)
11ms
[VIRTUAL] High levels of baseline ctDNA constitute a poor prognostic factor in progression-free survival in patients receiving neo-adjuvant chemo-immunotherapy: Results from NADIM clinical trial (AACR 2021)
Concentrations of baseline ctDNA have been shown to be of prognostic significance.Patients and methods 42 pre-treatment plasma samples from the NADIM clinical trial (NCT03081689), in which resectable stage IIIA NSCLC patients were treated with neoadjuvant chemo-immunotherapy with Nivolumab, were analyzed by NGS, using the Oncomine Pan-Cancer Cell-Free Assay™ (Thermo Fisher Scientific®)...Finally, ctDNA levels at Mutant Allele Frequency (MAF) below 1% at baseline were associated with improved PFS (P=0.025). At 30 months, PFS was 80.30% for these patients compared with 58.33% in patients with ctDNA levels ≥ 1%.Conclusions Molecular profiling of liquid biopsies collected before neoadjuvant chemo-immunotherapy using NGS can identify patients at high risk of progression who might require more aggressive adjuvant treatment in order to achieve a better control of the disease.
Clinical • PD(L)-1 Biomarker • IO biomarker • Circulating tumor DNA
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • GNA11 (G Protein Subunit Alpha 11)
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TP53 mutation • GNA11 mutation
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Oncomine™ Pan-Cancer Cell-Free Assay
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Opdivo (nivolumab)
11ms
Testing Trametinib as a Potential Targeted Treatment in Cancers With GNAQ or GNA11 Genetic Changes (MATCH-Subprotocol S2) (clinicaltrials.gov)
P2, N=4, Active, not recruiting, National Cancer Institute (NCI) | N=35 --> 4 | Trial primary completion date: Feb 2021 --> Sep 2020
Clinical • Enrollment change • Trial primary completion date
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
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Mekinist (trametinib)
12ms
Vorinostat in Treating Patients With Metastatic Melanoma of the Eye (clinicaltrials.gov)
P2, N=40, Suspended, National Cancer Institute (NCI) | N=28 --> 40 | Trial primary completion date: Aug 2018 --> Jun 2022
Clinical • Enrollment change • Trial primary completion date
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BCL2 (B-cell CLL/lymphoma 2) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation • BAP1 mutation
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Zolinza (vorinostat)
1year
[VIRTUAL] Landscape of circulating tumor DNA (ctDNA) abnormalities in advanced prostate cancer (aPCa): Distinctions in African American (AA) versus Caucasian (Ca) patients. (ASCO-GU 2021)
In this dataset, liquid biopsy of ctDNA was useful for genetic characterization of aPCa and reveal differences in the molecular phenotype of AA and Ca in aPCa with potential clinical implications. These findings support ongoing research on the clinical utility of non-invasive genotyping and therapeutic response monitoring with a focus on AA population.
Clinical • MSi-H Biomarker • BRCA Biomarker
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • CDK12 (Cyclin dependent kinase 12) • GNA11 (G Protein Subunit Alpha 11) • BRCA (Breast cancer early onset) • NTRK (Neurotrophic receptor tyrosine kinase)
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MSI-H/dMMR • GNA11 mutation
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Guardant360® CDx
1year
Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing. (PubMed, Int J Mol Sci)
Clinical presentation, histopathological characteristics and copy number alterations are associated with survival in ocular melanoma. Tissue material is needed to classify ocular melanoma in the different subgroups, which creates a need for the use of noninvasive techniques to prognosticate patients who underwent eye preserving treatment.
Review • Journal
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • TERT (Telomerase Reverse Transcriptase)
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BRAF mutation • NRAS mutation • GNAQ mutation • GNA11 mutation • SF3B1 mutation • BAP1 mutation
1year
Publication trends of research on uveal melanoma during 2000-2020: a 20-year bibliometric study. (PubMed, Ann Transl Med)
We conclude that the United States, Germany, England and the Netherlands have been the most productive regions in terms of UM research over the past two decades. Gene mutations such as GNAQ, GNA11 and BAP1 mutations are identified as potential research focuses.
Review • Journal
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GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation • BAP1 mutation
1year
Vorinostat in Treating Patients With Metastatic Melanoma of the Eye (clinicaltrials.gov)
P2, N=28, Suspended, National Cancer Institute (NCI) | N=40 --> 28
Clinical • Enrollment change
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BCL2 (B-cell CLL/lymphoma 2) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation • BAP1 mutation
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Zolinza (vorinostat)
1year
Testing Trametinib as a Potential Targeted Treatment in Cancers With GNAQ or GNA11 Genetic Changes (MATCH-Subprotocol S2) (clinicaltrials.gov)
P2, N=35, Active, not recruiting, National Cancer Institute (NCI) | Trial primary completion date: Nov 2020 --> Feb 2021
Clinical • Trial primary completion date
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
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Mekinist (trametinib)
over1year
Uterine Cellular Blue Nevus Arising in Mullerian and Pelvic Dendritic Melanocytosis: Case Report of a Rare Phenomenon to Be Distinguished From Uterine Melanoma. (PubMed, Int J Gynecol Pathol)
Molecular analysis of the uterine tumor identified a GNA11 mutation but no TERT or BAP1 mutation. The uterine melanocytic tumor has characteristic findings of a cellular blue nevus arising in association with dendritic melanocytosis of Mullerian and pelvic tissues, a rarely seen benign phenomenon that should be distinguished from malignant melanoma of the upper genital tract.
Clinical • Journal • PD(L)-1 Biomarker
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PD-L1 (Programmed death ligand 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • TERT (Telomerase Reverse Transcriptase) • PRAME (Preferentially Expressed Antigen In Melanoma) • SOX10 (SRY-Box 10)
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BRAF V600E • BRAF V600 • GNA11 mutation • BAP1 mutation
over1year
Evaluation Interest of the Circulating Tumor DNA Dosage in Patient With Hepatic Metastatic Uveal Melanoma Candidate to Complete Resection (ct DNA R0) (clinicaltrials.gov)
P=N/A, N=60, Completed, Institut Curie | Active, not recruiting --> Completed | Trial completion date: Oct 2021 --> Feb 2020 | Trial primary completion date: Oct 2019 --> Feb 2020
Clinical • Trial completion • Trial completion date • Trial primary completion date • Circulating tumor DNA
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
over1year
Primary Intra-abdominal Melanoma Arising in Association with Extracutaneous Blue Nevus: A Report of Two Cases. (PubMed, Histopathology)
Exceptionally rare, aggressive melanomas arising in extracutaneous blue nevi should be distinguished from metastatic melanoma, gastrointestinal stromal tumor, and malignant melanotic nerve sheath tumor, especially given the significant therapeutic and prognostic differences between these different entities.
Clinical • Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • SOX10 (SRY-Box 10)
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GNAQ mutation • GNA11 mutation • BAP1 mutation
over1year
[VIRTUAL] A pan-cancer study of GNAQ/GNA11 mutations in Chinese cancer patients (ESMO 2020)
The most common mutations of protein change was p.Thr96Ser (20.5%), followed by p.Tyr101* (14.5%) and p.Lys322Asn (2.6%), which mainly occurred in exon 2 (2/7) and exon7 (7/7)...Legal entity responsible for the study: Inner Mongolia People's Hospital. Funding: Has not received any funding.
Clinical • Pan tumor
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TP53 (Tumor protein P53) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • KMT2C (Lysine Methyltransferase 2C) • CREBBP (CREB binding protein)
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TP53 mutation • GNAQ mutation • GNA11 mutation
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TY 101
over1year
Testing Trametinib as a Potential Targeted Treatment in Cancers With GNAQ or GNA11 Genetic Changes (MATCH-Subprotocol S2) (clinicaltrials.gov)
P2, N=35, Active, not recruiting, National Cancer Institute (NCI) | Trial primary completion date: May 2019 --> Nov 2020
Clinical • Trial primary completion date
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation
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Mekinist (trametinib)
over1year
Metabolic adaptations to MEK and CDK4/6 co-targeting in uveal melanoma. (PubMed, Mol Cancer Ther)
In vitro, palbociclib, a CDK4/6i, enhanced the effects of MEKi via downregulation of cell cycle proteins. IACS-010759, an OxPhos inhibitor, decreased UM cell survival in combination with MEKi + CDK4/6i. These data highlight adaptive upregulation of OxPhos in response to MEKi + CDK4/6i treatment in UM and suggest that suppression of this metabolic state may improve the efficacy of MEKi plus CDK4/6i combinations.
Journal
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • CDK4 (Cyclin-dependent kinase 4)
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ER positive • GNAQ mutation • GNA11 mutation
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Ibrance (palbociclib) • IACS-010759
over1year
[VIRTUAL] Adaptive and acquired resistance to GNAQ/11 inhibition in uveal melanoma (AACR-II 2020)
Here we found that YM-254890, a cyclic depsipeptide, inhibited downstream signaling induced by GNAQQ209L and GNA11Q209L, but not GNA14Q205L, GNA15Q212L and GNASQ227L in 293T cells, confirming that it is a GNAQ/11-specific inhibitor...Concordantly, an engineered GNA11 with the two mutations in cis was resistant to the compound. Our data suggest that targeting mutant GNAQ/11 is promising but will require combinatorial targeting of EDNR signaling and possibly other pathways to reach maximal clinical efficacy.
Preclinical
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation • GNAQ Q209L • GNAQ Q209P • GNA11 Q209L
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YM-254890
over1year
[VIRTUAL] Preclinical evaluation of PRKC fusions and GNA11/GNAQ mutations as genetic drivers of PKC activation in non-MUM indications to support a phase 1/2 basket trial of IDE196 (AACR-II 2020)
Assessment of cell lines harboring GNAQ/GNA11 hotspot/non-hotspot mutations for IDE196 sensitivity is ongoing.(1) An-Angela N. Van, Timothy R. Baffi, Maya T. Kunkel, Corina E. Antal and Alexandra C. Newton, FASEB J. (2018); vol 32, suppl.no. 1, abstract 687.6.
P1/2 data • Pan tumor
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • PRKCH (Protein Kinase C Eta) • VWA2 (Von Willebrand Factor A Domain Containing 2)
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GNAQ mutation • GNA11 mutation • PRKCH fusion • PRKCH-SPTB fusion
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darovasertib (IDE196)
almost2years
Melanoma Ex Blue Nevus With GNA11 Mutation and BAP1 Loss: Case Report and Review of the Literature. (PubMed, Am J Dermatopathol)
MBN with BAP1 loss presented at a younger average age (41 vs. 61 years), demonstrated larger average lesion thickness (9.0 vs. 7.3 mm), and had a higher rate of metastasis (50% vs. 33%) compared with BAP1-retained MBN. BAP1 expression studies may assist in the diagnosis and management of MBN, but further research is needed.
Clinical • Journal
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GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
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GNAQ mutation • GNA11 mutation • BAP1 mutation
almost2years
Vulvo-vaginal melanoma: Advances and consensus in UK practice (SGO 2020)
This new U.K. guidance provides clinicians with an agreed-upon framework for managing this rare malignancy ensuring standardization and optimization of care throughout the United Kingdom.
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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BRAF mutation • GNA11 mutation
almost2years
Vulvo-vaginal melanoma: Advances and consensus in UK practice (SGO 2020)
This new U.K. guidance provides clinicians with an agreed-upon framework for managing this rare malignancy ensuring standardization and optimization of care throughout the United Kingdom.
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
|
BRAF mutation • GNA11 mutation
almost2years
Vulvo-vaginal melanoma: Advances and consensus in UK practice (SGO 2020)
This new U.K. guidance provides clinicians with an agreed-upon framework for managing this rare malignancy ensuring standardization and optimization of care throughout the United Kingdom.
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
|
BRAF mutation • GNA11 mutation
almost2years
Vulvo-vaginal melanoma: Advances and consensus in UK practice (SGO 2020)
This new U.K. guidance provides clinicians with an agreed-upon framework for managing this rare malignancy ensuring standardization and optimization of care throughout the United Kingdom.
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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BRAF mutation • GNA11 mutation
almost2years
Verification of EZH2 as a druggable target in metastatic uveal melanoma. (PubMed, Mol Cancer)
These findings validate EZH2 as a druggable target in metastatic UM patients, and may shed light on the understanding and interfering the complicated metastatic process.
Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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GNA11 mutation
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GSK2816126
2years
Genomic Profiling of Metastatic Uveal Melanoma Revealed Frequent Co-Existing Mutations of BAP1 and SF3B1 with GNAQ/GNA11 and Potential Correlation with Prognosis (USCAP 2020)
Three patients with BAP1 mutations received trametinib after liver met; 2 were still alive after 15 and 23 mo, and 1 was deceased at 32 mo... BAP1 and SF3B1 mutations were frequent in metastatic UMs. Co-existing BAP1/SF3B1 and GNAQ/11 mutations seem to be unique to UM. In melanoma, SF3B1 mutations were reported to be UM-specific and associated with rare or no metastasis.
IO biomarker
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • ERBB4 (erb-b2 receptor tyrosine kinase 4)
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GNA11 mutation • BAP1 mutation
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Mekinist (trametinib)