Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)

Abstract excerpt

Germline SDHA mutations are reported in a minority of pheochromocytoma/paraganglioma (PPGL) cases but are associated with an increased risk of malignancy, leading some to advocate cascade genetic testing and surveillance screening of “at-risk” first-degree relatives. However, such approaches rely on accurate estimates of variant pathogenicity and disease penetrance, which may have been subject to ascertainment...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal and Paraganglionic Tumors
• Share to Hormonal Regulation and Hypertension
• Share to Pituitary Gland Disorders and Treatments