Associated Papers
Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours.
Dorwal P et al.
Journal of Clinical Laboratory Analysis, 2026
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
GNAQ-/GNA14-mutated hepatic vascular malformation with capillary proliferation in adults and children.
Fischer AK et al.
Human Pathology, 2025
Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.
Iavarone L et al.
International Journal of Molecular Sciences, 2025
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.
Pilch J et al.
Cancers, 2024
Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type.
Xue S et al.
Journal of Clinical Pathology, 2024
Persistent Thrombotic Hemangioma With Organizing/Anastomosing Features: A Case Report of a Guanine Nucleotide-Binding Protein Alpha Subunit (GNA)-Mutated Cutaneous Vascular Lesion.
Bobkova S et al.
Cureus, 2024
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Ren J et al.
American Journal of Human Genetics, 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
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.
Wadt KAW et al.
Plos One, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Rosai-Dorfman Disease between Proliferation and Neoplasia.
Elbaz Younes I et al.
Cancers, 2022
GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma.
Silva-Rodríguez P et al.
Cancers, 2022
Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.
Huang F et al.
Scientific Reports, 2022
Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma.
Urtatiz O et al.
Elife, 2021
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J et al.
Nature Genetics, 2021
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Li H et al.
Bmc Cancer, 2021
NRAS Mutations May Be Involved in the Pathogenesis of Cutaneous Rosai Dorfman Disease: A Pilot Study.
Wu KJ et al.
Biology, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.
Jansen P et al.
Frontiers in Genetics, 2021
GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma.
Livingstone E et al.
The British Journal of Dermatology, 2020
Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation.
Triana P et al.
Journal of Pediatric Surgery, 2020
Diffuse bone and soft tissue angiomatosis with GNAQ mutation.
Gaeta R et al.
Pathology International, 2020
Segmental congenital hemangiomas: Three cases of a rare entity.
Smith RJ et al.
Pediatric Dermatology, 2020
GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma.
Liau JY et al.
Virchows Archiv : an International Journal of Pathology, 2020
Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling.
Ten Broek RW et al.
Annals of Diagnostic Pathology, 2020
Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma.
Zhang ED et al.
Precision Clinical Medicine, 2019
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 2019
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.
Le Guin CHD et al.
Cancers, 2019
The genetic evolution of metastatic uveal melanoma.
Shain AH et al.
Nature Genetics, 2019
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.
Klebanov N et al.
Jama Dermatology, 2019
Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.
Bichsel CA et al.
Jama Ophthalmology, 2019
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm.
Joseph NM et al.
The American Journal of Surgical Pathology, 2018
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
Siegel DH et al.
The Journal of Investigative Dermatology, 2018
Genomic Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases.
Isales MC et al.
The American Journal of Dermatopathology, 2018
BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.
Francis JH et al.
Investigative Ophthalmology & Visual Science, 2018
SF3B1 and BAP1 mutations in blue nevus-like melanoma.
Griewank KG et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
Hepatic small vessel neoplasm, a rare infiltrative vascular neoplasm of uncertain malignant potential.
Gill RM et al.
Human Pathology, 2016
Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.
Ibarrola-Villava M et al.
Oncotarget, 2016
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Ayturk UM et al.
American Journal of Human Genetics, 2016
Digital PCR validates 8q dosage as prognostic tool in uveal melanoma.
Versluis M et al.
Plos One, 2015