Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Samantha E GreenbergMichelle F JacobsHeather WachtelAmanda AnsonLuke BuchmannDebbie L CohenMaria BonanniBonita BennettAnne NaumerAmanda M SchaeferWendy KohlmannKatherine L NathansonTobias ElseLauren Fishbein

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Current SDHx screening protocols are effective at identifying SDHx-related tumors. Tumor detection rates vary by SDHx gene and screening has the potential to uncover actionable secondary findings. Imaging is an essential part of the screening process as biochemical testing alone does not detect all disease.

Keyphrases

high resolution
gene expression
loop mediated isothermal amplification
label free
copy number
mass spectrometry
climate change