Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.W535L
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SMO

NM_005631.5:p.W535L

Associated Papers

Ameloblastoma Displays Primary Cilia Maintenance and CEP164 Overexpression.

Miyazaki R et al.

Journal of Dental Research, 2026

The prognostic impact of CDKN2A/B hemizygous deletions in meningioma.

Ippen FM et al.

Neuro-oncology, 2026

Molecular landscape and clinical correlates of olfactory groove meningiomas: a multi-institutional study.

Alkhatib M et al.

Journal of Neurosurgery, 2025

Phase II Study of Vismodegib in Patients With SMO- or PTCH1-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.

Tsao AS et al.

Jco Precision Oncology, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Mutational Landscape of Ameloblastoma: Analysis of BRAF and Other Key Mutations in Chinese Patients.

You Z et al.

Oral Diseases, 2025

European Association of Neuro-Oncology guideline on molecular testing of meningiomas for targeted therapy selection.

Sahm F et al.

Neuro-oncology, 2025

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

POLR2A Mutation is a Poor Prognostic Marker of Cerebellopontine Angle Meningioma.

Okano A et al.

Neurosurgery, 2024

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S3

Imperatorin Suppresses Aberrant Hedgehog Pathway and Overcomes Smoothened Antagonist Resistance via STAT3 Inhibition.

Wang J et al.

Drug Design, Development and Therapy, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

Whole-exome sequencing of secondary tumors arising from nevus sebaceous revealed additional genomic alterations besides RAS mutations.

Kim YS et al.

The Journal of Dermatology, 2023

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 2023

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.

Mishra-Gorur K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Genomic profiling and precision medicine in complex ameloblastoma.

Gates JC et al.

Head & Neck, 2023

Impact of a cell cycle and an extracellular matrix remodeling transcriptional signature on tumor progression and correlation with EZH2 expression in meningioma.

Pereira BJA et al.

Journal of Neurosurgery, 2023

36029259 (PubMed )
Supplement: SupplementaryFiguresandTables_JNS22-953.zip › SupplementaryTables_JNS22-953.xlsx › Suppl_Table_1-somatic_mutations

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Brain Invasion and Trends in Molecular Research on Meningioma.

Go KO et al.

Brain Tumor Research and Treatment, 2023

Genomic Landscape of Meningiomas.

Wang JZ et al.

Advances in Experimental Medicine and Biology, 2023

Liquid biopsy evaluation of circulating tumor DNA, miRNAs, and cytokines in meningioma patients.

Aran V et al.

Frontiers in Neurology, 2023

New Ameloblastoma Cell Lines Enable Preclinical Study of Targeted Therapies.

Nguyen J et al.

Journal of Dental Research, 2022

Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.

Hoashi T et al.

International Journal of Molecular Sciences, 2022

Towards Precision Oncology: The Role of Smoothened and Its Variants in Cancer.

Nicheperovich A et al.

Journal of Personalized Medicine, 2022

Precision medicine: Sustained response to erdafitinib in FGFR2-mutant, multiply recurrent ameloblastoma.

Lawson-Michod KA et al.

Cancer Reports (hoboken, N.j.), 2022

Canonical Hedgehog Pathway and Noncanonical GLI Transcription Factor Activation in Cancer.

Suchors C et al.

Cells, 2022

NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas.

Sakai Y et al.

Cancers, 2022

The developmental stage of the medulloblastoma cell-of-origin restricts Sonic hedgehog pathway usage and drug sensitivity.

Smit MJ et al.

Journal of Cell Science, 2022

Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma.

Kokubun K et al.

International Journal of Surgical Pathology, 2022

Frequency and Genomic Aspects of Intrinsic Resistance to Vismodegib in Locally Advanced Basal Cell Carcinoma.

Yurchenko AA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

A new amplicon-based gene panel for next generation sequencing characterization of meningiomas.

Mawrin C et al.

Brain Pathology (zurich, Switzerland), 2022

The use of Sonidegib in the adjuvant and advanced phases of Sonic Hedge Hog Mutant Medulloblastomas.

Yuile AK et al.

Oxford Medical Case Reports, 2022

Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumors.

Sahin I et al.

Molecular and Clinical Oncology, 2022

Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Kim J et al.

Frontiers in Oncology, 2022

Analysis of residual disease in periocular basal cell carcinoma following hedgehog pathway inhibition: Follow up to the VISORB trial.

Unsworth SP et al.

Plos One, 2022

Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas.

Kirches E et al.

Acta Neuropathologica, 2021

Discovering the Molecular Landscape of Meningioma: The Struggle to Find New Therapeutic Targets.

Maggio I et al.

Diagnostics (basel, Switzerland), 2021

GAB1 overexpression identifies hedgehog-activated anterior skull base meningiomas.

Boetto J et al.

Neuropathology and Applied Neurobiology, 2021

MAPK15 Controls Hedgehog Signaling in Medulloblastoma Cells by Regulating Primary Ciliogenesis.

Pietrobono S et al.

Cancers, 2021

Human cell transformation by combined lineage conversion and oncogene expression.

Sahu B et al.

Oncogene, 2021

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

Meningioma: A Pathology Perspective.

Toland A et al.

Neurosurgery, 2021

Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.

Okano A et al.

Scientific Reports, 2021

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
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