Article
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.
Cancer research - 15 Oct 2006
Cranston Aaron N, Carniti Cristiana, Oakhill Kim, Radzio-Andzelm Elzbieta, Stone Eric A, McCallion Andrew S, Hodgson Shirley, Clarke Sue, Mondellini Piera, Leyland Jean, Pierotti Marco A, Whittaker Joanne, Taylor Susan S, Bongarzone Italia, Ponder Bruce A J
Abstract excerpt
Constitutive activation of the RET receptor tyrosine kinase underlies the genesis and progression of multiple endocrine neoplasia type 2 (MEN 2), a dominantly inherited cancer predisposition. Importantly, although kinase activation represents a common theme in neoplasias, not all activating mutations are functionally equivalent. Consistent with this, we ascertained a patient with classical features of MEN 2B, but...
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