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GENE:

GNAS (GNAS Complex Locus)

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Other names: GNAS, GNAS Complex Locus, Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide 1, Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas, Adenylate Cyclase-Stimulating G Alpha Protein, Alternative Gene Product Encoded By XL-Exon, Extra Large Alphas Protein, G Protein Subunit Alpha S, Secretogranin VI, Protein ALEX, NESP55, GNAS1, SCG6, GSP, Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms Short, Guanine Nucleotide Regulatory Protein, Neuroendocrine Secretory Protein 55, Neuroendocrine Secretory Protein, Protein SCG6 (Secretogranin VI), Protein GNAS, C20orf45, GNASXL, PITA3
4d
Malignant transformation of fibrous dysplasia in long bones: a clinicopathological and molecular study of 19 cases. (PubMed, J Clin Pathol)
Our analysis revealed unique clinicopathological characteristics and genetic markers in FD-associated sarcomas, deepening our knowledge of the mechanisms behind malignant transformation in FD and offering diagnostic tools for enhanced pathological assessment.
Journal
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TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KDM6A (Lysine Demethylase 6A) • GNAS (GNAS Complex Locus)
6d
Intramuscular Myxoma of the Penis: A Case Report. (PubMed, Cureus)
This case concerns a 27-year-old man with a slow-growing mass on the ventral aspect of the distal penile shaft, present for over 10 years, which posed a diagnostic dilemma. However, with the aid of imaging and histology, a confirmation of this rare pathology was made.
Journal
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GNAS (GNAS Complex Locus)
17d
Clinical characteristics associated with somatic GNAS mutations in acromegaly: a systematic review and institutional experience. (PubMed, Front Endocrinol (Lausanne))
Larger and prospective studies are needed exploring the frequency and intensity of preoperative symptoms and comorbidities, postoperative outcomes, and occurrence of prolactin co-secretion in GNAS+ tumors. https://www.crd.york.ac.uk/prospero/, identifier CRD420251107763.
Clinical • Review • Journal
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SSTR (Somatostatin Receptor) • GNAS (GNAS Complex Locus)
18d
Gamma-glutamyl transferase as a redox-gatekeeper biomarker for pancreatic cystic neoplasms: A concise roadmap from epidemiology to bedside. (PubMed, World J Gastroenterol)
We propose: (1) Refining age-specific GGT thresholds via repeated measurements and restricted cubic splines; (2) Integrating GGT with carbohydrate antigen 19-9, carcinoembryonic antigen, and KRAS/GNAS circulating tumor DNA in machine-learning radiomic models for personalized 5-year malignancy risks per Fukuoka guidelines; and (3) Validating cost-effectiveness in multi-ethnic populations before screening. This repositions GGT as a globally available redox biosignature for PCN early detection, potentially reducing pancreatic cancer burden.
Review • Journal
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KRAS (KRAS proto-oncogene GTPase) • IL6 (Interleukin 6) • CEACAM5 (CEA Cell Adhesion Molecule 5) • STAT3 (Signal Transducer And Activator Of Transcription 3) • GNAS (GNAS Complex Locus) • IL6ST (Interleukin 6 Signal Transducer)
19d
Association of Activating GNAS Mutations and Outcomes with Chemotherapy in Metastatic Appendiceal Adenocarcinoma. (PubMed, Ann Surg Oncol)
With systemic chemotherapy, GNAS-mutated metastatic/recurrent AAs have worse EFS despite less frequent high-risk features. Routine somatic mutation-testing of patients with AA should be considered for prognostication and possibly therapeutic decision-making.
Journal
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GNAS (GNAS Complex Locus)
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5-fluorouracil • capecitabine
20d
Phosphaturic mesenchymal tumour, connective tissue variant: a rare radiological presentation involving the radius mimicking fibrous dysplasia with oncogenic rickets. (PubMed, Skeletal Radiol)
The rapid progression of imaging findings, discordant metabolic abnormalities and markedly elevated FGF-23 levels poses a diagnostic challenge. As such, fibrous dysplasia-like lesions of the extremities in the setting of hypophosphataemic rickets should prompt consideration of PMT.
Journal
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GNAS (GNAS Complex Locus) • FGF23 (Fibroblast Growth Factor 23)
28d
Endoscopic ultrasound-guided radiofrequency ablation for large branch-duct intraductal papillary mucinous neoplasms: Safety and efficacy trial. (PubMed, Endosc Int Open)
Molecular response remains exploratory and requires further validation. Long-term studies assessing progression-free outcomes are needed to define its role as an organ-preserving therapeutic option.
Journal
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KRAS (KRAS proto-oncogene GTPase) • GNAS (GNAS Complex Locus)
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KRAS mutation
1m
Identifying and capitalizing on unique molecular alterations of mucinous ovarian carcinoma for the development of novel therapeutic strategies. (PubMed, Gynecol Oncol Rep)
MOC has a distinct genomic profile with molecular vulnerabilities that can be exploited using novel targeted therapies. Participation of patients with MOC in molecularly driven early phase basket trials should be encouraged.
Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • 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) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • SMAD4 (SMAD family member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • APC (APC Regulator Of WNT Signaling Pathway) • GNAS (GNAS Complex Locus)
1m
New P1 trial • Checkpoint inhibition • Tumor mutational burden • IO biomarker
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GNAS (GNAS Complex Locus) • CSF2 (Colony stimulating factor 2)
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Tevimbra (tislelizumab-jsgr)
1m
Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours. (PubMed, J Clin Lab Anal)
This analysis suggests that the variants in these genes can be confidently reported from RNA-Seq data obtained from an RNA-based fusion panel.
Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • GNAQ (G Protein Subunit Alpha Q) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • GNAS (GNAS Complex Locus)