The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.

Abstract excerpt

PURPOSE: The co-occurrence of Hirschsprung's disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the presence of a "Janus" mutation in the RET proto-oncogene--a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. To date, four mutations in the exon 10 region of RET that are known to cause MEN2A have...

Topics

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

• Share to Child
• Share to DNA Mutational Analysis
• Share to DNA, Neoplasm