Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.L412F
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SMO

NM_005631.5:p.L412F

Associated Papers

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

Ippen FM et al.

Neuro-oncology, 2026

Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.

Khurana S et al.

Cancers, 2026

Expanding the paradigm of the recurrent mosaic SMO c.1234C>T variant: a patient with a linear blaschkoid congenital lesion with multiple basal cell carcinomas.

Tan L et al.

Clinical and Experimental Dermatology, 2025

Resistance to SMO Inhibitors in Advanced Basal Cell Carcinoma: A Case Highlighting the Role of Molecular Tumor Profiling.

Papaccio F et al.

International Journal of Molecular Sciences, 2025

Does Basal Cell Carcinoma Arise from a Precursor Lesion?

Wong SY et al.

The Journal of Investigative Dermatology, 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

Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.

Kim YA et al.

International Journal of Molecular Sciences, 2025

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

You Z et al.

Oral Diseases, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.

Berry V et al.

Genes, 2025

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

Sahm F et al.

Neuro-oncology, 2025

Novel germline and somatic variants in familial and sporadic meningioma genes.

Bencheikh BOA et al.

Npj Genomic Medicine, 2025

40374631 (PubMed )
Supplement: 41525_2025_494_MOESM2_ESM.xlsx › Sheet1

Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.

Barbieux S et al.

Pathology, 2025

Molecular and histopathological landscape of 131 meningiomas: a retrospective institutional study with insights from cIMPACT-NOW.

Ali RH et al.

Frontiers in 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

A Cohort Study of CNS Tumors in Multiple Endocrine Neoplasia Type 1.

Graillon T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38630553 (PubMed )
Supplement: ccr-23-3308_supplementary_table_s1_suppts1.xlsx › Feuil1

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

Molecular pathogenesis of ameloblastoma.

Marín-Márquez C et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2024

Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.

Murakami S et al.

Cancer Medicine, 2024

38572952 (PubMed )
Supplement: CAM4-13-e7162-s003.xlsx › DNA_mutations

Mesothelioma in situ of the peritoneum: report of three cases and review of the literature.

Symes E et al.

Histopathology, 2024

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

The Role of BRAF Inhibitors in the Management of Ameloblastoma: A Literature Review.

Malakar A et al.

Cureus, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report.

Noda Y et al.

Head and Neck Pathology, 2023

Hedgehog pathway mutations are involved in the pathogenesis of plaque-type "trichoblastoma": A report of two cases.

Giang J et al.

Journal of Cutaneous Pathology, 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

Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma.

Awotoye W et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

DNA methylation profiling of meningiomas highlights clinically distinct molecular subgroups.

Singh J et al.

Journal of Neuro-oncology, 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

Segmental basaloid follicular hamartomas derive from a post-zygotic SMO p.L412F pathogenic variant and express hair follicle development-related proteins in a pattern that distinguish them from basal cell carcinomas.

Atzmony L et al.

American Journal of Medical Genetics. Part A, 2022

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

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

Suchors C et al.

Cells, 2022

Correlation of BRAF mutational status with clinical characteristics and survival outcomes of patients with ameloblastoma: the experience of 11 Italian centres.

Bonacina R et al.

Journal of Clinical Pathology, 2022

Molecular diagnostics in odontogenic tumors.

Buettner R et al.

Pathologie (heidelberg, Germany), 2022

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

Sakai Y et al.

Cancers, 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

Cancer stem cells, not bulk tumor cells, determine mechanisms of resistance to SMO inhibitors.

George J et al.

Cancer Research Communications, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."