Articles with "pgv carriers" as a keyword



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

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Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmedgenet-2021-108355

Abstract: 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… read more here.

Keywords: surveillance; pgv carriers; sdha; clinical practice ... See more keywords