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NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Garren, Benjamin; Stephan, Mark; Hogue, Jacob S.
Afiliação
  • Garren B; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.
  • Stephan M; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.
  • Hogue JS; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.
Am J Med Genet A ; 182(1): 195-200, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31697451
ABSTRACT
RASopathies are a group of phenotypically overlapping disorders that arise from dysregulation of the RAS/MAPK pathway. These disorders include Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, and neurofibromatosis-Type 1. While somatic mutations in the three human Ras genes (KRAS, HRAS, and NRAS) are a common finding in a variety of cancers, germline mutations in each of the these genes cause developmental RASopathy phenotypes with mutations in specific genes typically correlating with specific phenotypes. We present the case of a germline heterozygous NRAS mutation producing a severe phenotype involving embryonal rhabdomyosarcoma, severe intellectual disability, and numerous melanocytic nevi in addition to more typical manifestations of Noonan syndrome. Additionally, the specific p.G12R NRAS mutation in this case is a common somatic mutation in cancer cells, and analysis of previously reported NRAS-RASopathy cases suggests that mutations at traditionally oncogenic codons are associated with elevated cancer risk not present with mutations at other sites.
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Relato de casos Idioma: Inglês Revista: Am J Med Genet A Assunto da revista: Genética Médica Ano de publicação: 2020 Tipo de documento: Artigo

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Relato de casos Idioma: Inglês Revista: Am J Med Genet A Assunto da revista: Genética Médica Ano de publicação: 2020 Tipo de documento: Artigo