UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with an apparently sporadic tumour, but often the pathogenic variant has been inheri...

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Detalles Bibliográficos
Autores principales: Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P, Cook, Jackie A, Brewer, Carole, Drummond, James, Butler, Samantha, Cranston, Treena, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M, Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887350/
https://www.ncbi.nlm.nih.gov/pubmed/35260474
http://dx.doi.org/10.1136/jmedgenet-2021-108355

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