Article
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Journal of medical genetics - 1 Feb 2023
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
Abstract excerpt
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 inherited from parent who has the variant, but has not developed any clinical features. Studies of SDHA PGV carriers...
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