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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:
2ms
PKC-independent PI3K signalling diminishes PKC inhibitor sensitivity in uveal melanoma. (PubMed, Oncogenesis)
We examined the transcriptome of UM biopsies collected pre- and post-PKC inhibitor therapy and confirmed that MAPK, but not PI3K/AKT signalling, was inhibited early during treatment with the second-generation PKC inhibitor IDE196...We also show that re-activation of MAPK signalling has a dominant role in regulating PKC inhibitor responses in UM and that PI3K/AKT signalling diminishes UM cell sensitivity to PKC inhibitor monotherapy. Thus, combination therapies targeting PKC and PKC-independent signalling nodes, including PI3K/AKT activity, are required to improve responses in patients with metastatic UM.
Journal
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
darovasertib (IDE196)
9ms
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) | Trial completion date: May 2024 --> Dec 2025
Trial completion date
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GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
9ms
Tebentafusp (tebe) in an ongoing cohort of 72 French patients (pts) with metastatic uveal melanoma (mUM) (ESMO 2023)
Baseline ctDNA and LDH are prognostic factors while ctDNA clearance might predict benefit from Tebe. Other analyses are ongoing to identify new predictive biomarkers.
Clinical • Metastases
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • LXN (Latexin)
|
GNAQ mutation • GNA11 mutation
|
Kimmtrak (tebentafusp-tebn)
11ms
Enrollment change
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
1year
Trametinib in Patients With NF1-, GNAQ-, or GNA11-Mutant Tumors: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols S1 and S2. (PubMed, JCO Precis Oncol)
Although these subprotocols did not meet the primary end point for ORR, significant responses or prolonged SD noted in some disease subtypes warrants further investigation.
Journal
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
PIK3CA mutation • NF1 mutation • GNA11 mutation • GNA11 Q209L
|
Mekinist (trametinib)
1year
Genomic profiling of uveal melanoma patients using the GENIE database (AACR 2023)
GNAQ and GNA11 mutations were identified to be the most frequent mutations among UM patients, with a mutual exclusivity relationship between the two genes. New therapeutic modalities should consider the comprehensive genomic profiling of UM patients to improve their overall survival rate and quality of life.
Clinical
|
GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • CHEK2 (Checkpoint kinase 2) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)
|
GNAQ mutation • GNA11 mutation • BAP1 mutation • GNAQ mutation + GNA11 mutation
1year
GNAQ/GNA11 and BAP1 mutant isogenic cell lines engineered by CRISPR/Cas9 gene editing to model ocular melanoma (AACR 2023)
A decrease in the proliferation and metabolic activity was observed in Mel285GNAQ-KO and Mel285BAP1-KO cell lines in comparison to the wildtype cells. Furthermore, an increase of phosphorylated ATF2/7 was noted in Mel285GNAQ-KO and Mel285GNA11-KO cell lines by western blotting.A better understanding of the altered pathways in our GNAQ/11 or BAP1 mutant isogenic cell lines will help to identify new drugs targeting specifically metastatic UM cells.
Preclinical • BRCA Biomarker
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GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • ATF2 (Activating Transcription Factor 2)
|
GNA11 mutation • BAP1 mutation • GNAQ Q209L • GNA11 Q209L
1year
Molecular profiling of primary uveal melanoma: results of a Polish cohort. (PubMed, Melanoma Res)
Although GNA11 mutation and CDKN2A loss significantly correlated with progression-free survival in our study, our sample size is small. The prognostic significance of GNAQ/GNA11 mutation and CDKN2A loss would require further investigation.
Journal
|
MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • GNA11 (G Protein Subunit Alpha 11) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • PLCB4 (Phospholipase C Beta 4)
|
PALB2 mutation • GNAQ mutation • CDKN2A mutation • GNA11 mutation • BAP1 mutation • GNAQ Q209L • GNAQ Q209P • GNA11 Q209L
1year
Circulating tumor DNA as a Prognostic Factor in Patients with Resectable Hepatic Metastases of Uveal Melanoma. (PubMed, Ann Surg)
This study is the first to report ctDNA detection rate and prognostic impact in UM patients eligible for surgical resection of their liver metastases. If confirmed by further studies in this setting, this non-invasive biomarker could inform treatment decisions in UM patients with liver metastases.
Journal • Circulating tumor DNA
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
over1year
Molecular characteristics of uveal melanoma in Korean patients (Macula 2023)
The molecular characteristics of Korean uveal melanoma patients were largely similar to those of Western patients, except for relatively higher frequency of 8q gain, which appears to develop in eariler ages before clinical dignosis of tumors.
Clinical
|
GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)
|
GNAQ mutation • SF3B1 mutation • GNA11 mutation • BAP1 mutation
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: Oct 2022 --> May 2023
Trial primary completion date
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
over1year
Melanoma arising in extracutaneous cellular blue nevus: report of two cases with comparison to cutaneous counterparts and uveal melanoma. (PubMed, Histopathology)
The close relationship between blue naevus-associated melanomas, regardless of their anatomical site, supports and validates the concept of melanoma arising in extracutaneous blue naevus and suggests that the two groups share common pathogenic mechanisms. The similarity of both groups to uveal melanoma in turn supports the close relationship between blue naevus-associated melanoma, uveal melanoma and CNS melanocytoma, and their distinction from conventional UV-associated melanoma. These findings have important implications for prognosis and therapy.
Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
TMB-L • GNAQ mutation • GNA11 mutation
over1year
Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma. (PubMed, Front Med)
Furthermore, the palmitoylation inhibitor, 2-bromopalmitate, also specifically disrupted Gα downstream signaling by interfering with the MAPK pathway and BCL2 survival pathway in GNAQ/11-mutant UM cells and showed a notable synergistic effect when applied in combination with the BCL2 inhibitor, ABT-199, in vitro. The findings validate that GNAQ/11 palmitoylation plays a critical role in UM and may serve as a promising therapeutic target for GNAQ/11-driven UM.
Journal • IO biomarker
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Venclexta (venetoclax)
over1year
Anastomosing haemangioma: report of 3 cases with molecular and immunohistochemical studies (ECP 2022)
We demonstrated three cases of anastomosing haemangiomas with one case harbouring a GNA11 mutation which, besides conforming to its clonal nature, also serves as an important molecular signature to distinguish AHs from well-differentiated ASs. We also addressed the potential molecular differences between these two entities. Nevertheless, due to the small sample size and its rarity, a larger scale study is needed to elucidate this issue.
Clinical
|
TP53 (Tumor protein P53) • CCND1 (Cyclin D1) • GNA11 (G Protein Subunit Alpha 11) • HIF1A (Hypoxia inducible factor 1, alpha subunit)
|
GNA11 mutation • TP53 expression • HIF1A expression
almost2years
Recent Advances and Challenges in Uveal Melanoma Immunotherapy. (PubMed, Cancers (Basel))
More recently, the immune-mobilizing monoclonal T-cell receptor against the cancer molecule tebentafusp showed impressive antitumor effects. Meanwhile, oncolytic viruses and small molecule inhibitors have also gained ground. This review highlights recent progress in burgeoning treatments and provides innovative insights on feasible strategies for the treatment of UM.
Review • Journal • IO biomarker
|
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
BRAF mutation • NRAS mutation • GNAQ mutation • GNA11 mutation
|
Kimmtrak (tebentafusp-tebn)
almost2years
Loss of dimethylated H3K27 (H3K27me2) expression is not a specific marker of malignant peripheral nerve sheath tumor (MPNST): An immunohistochemical study of 137 cases, with emphasis on MPNST and melanocytic tumors. (PubMed, Ann Diagn Pathol)
We conclude that H3K27me2 loss is not specific for MPNST, and like H3K27me3, should be used in the appropriate clinicopathologic, immunohistochemical and molecular genetic context. Loss of H3K27me2 with retained H3K27me3 is a common feature of "blue nevus family" melanocytic tumors known to harbor GNAQ/GNA11 mutations.
Journal
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NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit)
|
GNAQ mutation • GNA11 mutation
almost2years
In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations. (PubMed, Eur J Cancer)
GNA11 mutated uveal melanoma has worse prognosis and is associated with high risk cytogenetic, mutational and molecular tumor characteristics that might be determined at least in part by differential DNA-methylation.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation • BAP1 mutation
almost2years
Case Report: 2-Year-Old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Mamorata Telangiectatica Congenita. (PubMed, J Pediatr Hematol Oncol)
Separately, a single GNA11 somatic mutation was identified to explain the CMTC. We suggest that genetic testing for germline mutations associated with Wilms tumor susceptibility be considered even in cases without known family history.
Journal
|
GNA11 (G Protein Subunit Alpha 11)
|
GNA11 mutation
almost2years
BRAF, NRAS, KIT, TERT, GNAQ/GNA11 Mutation Profile and Histomorphological Analysis of Anorectal Melanomas: A Clinicopathologic Study. (PubMed, Turk Patoloji Derg)
AMs are uncommon tumors with dismal survival, usually occurring in the elderly in various gross and microscopic appearances. In terms of molecular profile, BRAF and KIT mutations are rarely detected. Profiling of larger cohorts is required to elucidate the pathogenesis and to identify potential molecular indicators that may contribute to the development of individualized targeted therapies.
Journal
|
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • GNAQ (G Protein Subunit Alpha Q) • TERT (Telomerase Reverse Transcriptase) • GNA11 (G Protein Subunit Alpha 11)
|
BRAF V600E • BRAF mutation • BRAF V600 • KIT mutation • GNAQ mutation • GNA11 mutation • KIT K642E
2years
Comprehensive Clinical, Histopathologic, and Molecular Analysis and Long-term Follow-up of Patients With Nodal Blue Nevi. (PubMed, Am J Surg Pathol)
We conclude that blue nevi can involve lymph nodes and are associated with benign clinical behavior, and probably represent so-called "benign" metastasis. Awareness of these lesions is important when evaluating lymph nodes to avoid misdiagnosis as metastatic melanoma.
Journal
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GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
GNA11 mutation • GNAQ Q209L • GNAQ Q209P • GNA11 Q209L
2years
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: Jan 2022 --> Oct 2022
Trial primary completion date
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
2years
Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis. (PubMed, Am J Clin Pathol)
Coexisting BAP1/SF3B1 and GNAQ/11 mutations were unique to UM. SF3B1 mutations were reported to be UM-specific in melanoma and associated with rare/no metastasis. The finding of mutated SF3B1 in 14.8% (n = 27) of UMs suggests its role should be further evaluated. The correlation of BAP1/SF3B1 mutation with survival also warrants investigation.
Journal
|
GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • SF3B1 mutation • GNA11 mutation • BAP1 mutation
|
Mekinist (trametinib)
2years
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
|
GNA11 (G Protein Subunit Alpha 11) • CDKN1B (Cyclin dependent kinase inhibitor 1B)
|
GNA11 mutation
2years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
FR900359
over2years
New trial
|
GNA11 (G Protein Subunit Alpha 11)
|
GNA11 mutation
over2years
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
|
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)
|
GNAQ mutation • SF3B1 mutation • GNA11 mutation • PBRM1 mutation • BAP1 mutation • MET mutation • GNAQ Q209L • GNAQ Q209P • GNA11 Q209L
over2years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNA11 mutation • GNAQ Q209L • GNA11 Q209L
over2years
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
|
BRAF (B-raf proto-oncogene) • GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
BRAF mutation • GNAQ mutation • GNA11 mutation
over2years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
over2years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
3years
[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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
3years
[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
|
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)
|
TP53 mutation • GNA11 mutation
|
Oncomine™ Pan-Cancer Cell-Free Assay
|
Opdivo (nivolumab)
3years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)
3years
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
|
BCL2 (B-cell CLL/lymphoma 2) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation • BAP1 mutation
|
Zolinza (vorinostat)
over3years
[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
|
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) • GNA11 (G Protein Subunit Alpha 11) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • NTRK (Neurotrophic receptor tyrosine kinase)
|
MSI-H/dMMR • GNA11 mutation
|
Guardant360® CDx
over3years
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
|
BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • GNAQ (G Protein Subunit Alpha Q) • TERT (Telomerase Reverse Transcriptase) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
BRAF mutation • NRAS mutation • GNAQ mutation • SF3B1 mutation • GNA11 mutation • BAP1 mutation
over3years
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
|
GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation • BAP1 mutation
over3years
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
|
BCL2 (B-cell CLL/lymphoma 2) • GNAQ (G Protein Subunit Alpha Q) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation • BAP1 mutation
|
Zolinza (vorinostat)
over3years
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
|
GNAQ (G Protein Subunit Alpha Q) • GNA11 (G Protein Subunit Alpha 11)
|
GNAQ mutation • GNA11 mutation
|
Mekinist (trametinib)