Article
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.
The Journal of clinical endocrinology and metabolism - 1 Oct 2003
McWhinney Sarah R, Boru Getachew, Binkley Philip K, Peczkowska Mariola, Januszewicz Andrzej A, Neumann Hartmut P H, Eng Charis
Abstract excerpt
Approximately 75% of pheochromocytomas are sporadic. Germline mutations in RET, VHL, SDHB, and SDHD have been shown to cause the 25% that are hereditary. Germline high penetrance gain-of-function RET mutations cause multiple endocrine neoplasia type 2, of which medullary thyroid carcinoma (MTC) and pheochromocytoma are components, whereas loss-of-function mutations cause Hirschprung disease (HSCR). A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.