Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes <i>SDHA</i>, <i>TMEM127</i>, <i>MAX</i>, and <i>SDHAF2</i> for Gene-Informed Prevention

Abstract

The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.