P057: Incidence and phenotypic spectrum of SDHA pathogenic variants identified in an unselected precision medicine cohort*

Genetics in Medicine Open 2026 Open access

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Authors: Alexandra Capasso, Anuja Chitre, Katherine Roth, Joseph D. Bonner, Stacy W. Gray, Stephen Gruber, Heather Hampel, Christine Hong, Kevin J. McDonnell, Bita Nehoray, Ilana B. Solomon, Joanne Jeter
DOI: 10.1016/j.gimo.2026.103548
Cited by: 0

Abstract

Germline pathogenic or likely pathogenic variants (P/LP) in SDHA are associated with Hereditary Pheochromocytoma and Paraganglioma syndrome (HPPS), which confers an increased risk for pheochromocytomas, paragangliomas, and gastrointestinal stromal tumors (GIST). Existing literature suggests that risk for these tumors is lower in SDHA-associated HPPS compared to other SDH complex genes. Increasing numbers of incidental SDHA P/LP variants are being identified with multigene panel testing (MGPT). These incidental variants are challenging to manage in the absence of personal or family history of associated tumors.

Fields of Study & Subjects

Adrenal and Paraganglionic Tumors Genomics and Rare Diseases Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103548–103548
Publication date
1 January 2026
Language
EN