Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex - Klonowska, Katarzyna; Grevelink, Joannes M.; Giannikou, Krinio; Ogorek, Barbara A.; Herbert, Zachary T.; Thorner, Aaron R.; Darling, Thomas N.; Moss, Joel; Kwiatkowski, David J. (The Journal of clinical investigation, 2022)
Keywords: Biomedical research; Biopsy; Capillary electrophoresis; Cell culture; Clinical Medicine; Complications and side effects; Connective tissue tumors; Dermatology; Development and progression; Face; Facial Neoplasms - genetics; Fibroblasts; Gene deletion; Gene frequency; Gene mutations; Genetic aspects; Genetics; Head & neck cancer; Head and neck tumors; Health aspects; Humans; Medical research; Medicine, Experimental; Mutation; Nucleotides; p53 Protein; Risk factors; Skin; Tuberous sclerosis; Tuberous Sclerosis - diagnosis; Tuberous Sclerosis - genetics; Tuberous Sclerosis - pathology; Tuberous Sclerosis Complex 1; Tuberous Sclerosis Complex 1 Protein - genetics; Tuberous Sclerosis Complex 2; Tuberous Sclerosis Complex 2 Protein - genetics; Tumor Suppressor Proteins - genetics; Tumors; Ultraviolet radiation; United States; Genetics; Molecular genetics; Dermatology; Tumor suppressors; Skin cancer