article_metadata: Joanna Cyrta Julien Masliah-Planchon Owen Hoare Riwan Brillet Mamy Andrianteranagna Pierre Sohier Liesbeth Cardoen Yassine Bouchoucha Mathilde Filser Andreia Goncalves Martial Caly Paul Fréneaux Kalliopi Stefanaki Maria Pefkianaki Maria Moschovi Alexandre Matet Nathalie Cassoux Livia Lumbroso-Le Rouic Marion Gauthier-Villars Marc-Henri Stern Anne Vincent-Salomon Manuel Rodrigues Franck Bourdeaut
article_metadata: 10.1002/path.6390
article_metadata: J Pathol
article_metadata: 2025 Mar;265(3):357-371.
article_metadata: baf47 ini1 rtps1 smarcb1 swi/snf eye cancer genomics neural crest rhabdoid tumour uveal melanoma
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39853675/
article_metadata: Genetic Predisposition to Disease Germ-Line Mutation Melanoma / genetics Melanoma / pathology SMARCB1 Protein / deficiency SMARCB1 Protein / genetics SMARCB1 Protein / metabolism Uveal Neoplasms / genetics Uveal Neoplasms / metabolism Uveal Neoplasms / pathology
article_metadata: Genetic Predisposition to Disease Germ-Line Mutation Melanoma / genetics Melanoma / pathology SMARCB1 Protein / deficiency SMARCB1 Protein / genetics SMARCB1 Protein / metabolism Uveal Neoplasms / genetics Uveal Neoplasms / metabolism Uveal Neoplasms / pathology Case Reports Adolescent Biomarkers, Tumor / genetics Biomarkers, Tumor / metabolism DNA Methylation Female Humans Neural Crest / metabolism Neural Crest / pathology Rhabdoid Tumor / genetics Rhabdoid Tumor / pathology Young Adult SMARCB1 Protein SMARCB1 protein, human Biomarkers, Tumor
article_metadata: PMC11794973
article_metadata: 39853675
article_metadata: SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition
article_metadata: 2025