Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The RET receptor tyrosine kinase is crucial for normal development but also contributes to
pathologies that reflect both the loss and the gain of RET function. Activation of RET occurs …

Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of
the sympathetic or parasympathetic nervous system that are often inherited and are …

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are catecholamine-secreting
tumors of neural crest origin. Once collectively known as the '10% tumor', based on the …

Intravenously administered radiolabeled peptides targeting somatostatin receptors are used
for the treatment of unresectable gastroenteropancreatic neuroendocrine tumors (GEP …

Objective The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine
neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to …

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease
caused by RET gene germline mutations that is characterized by medullary thyroid …

Context: The phenotype of familial pheochromocytoma (PHEO) associated with germline
TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined. Objective …

Accurate interpretation of germline mutations of the rearranged during transfection (RET)
proto-oncogene is vital for the proper recommendation of preventive thyroidectomy in …

Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by
tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during …