Hyperactive Ras in developmental disorders and cancer

S Schubbert, K Shannon, G Bollag - Nature Reviews Cancer, 2007 - nature.com
S Schubbert, K Shannon, G Bollag
Nature Reviews Cancer, 2007nature.com
Ras genes are the most common targets for somatic gain-of-function mutations in human
cancer. Recently, germline mutations that affect components of the Ras–Raf–mitogen-
activated and extracellular-signal regulated kinase kinase (MEK)–extracellular signal-
regulated kinase (ERK) pathway were shown to cause several developmental disorders,
including Noonan, Costello and cardio-facio-cutaneous syndromes. Many of these mutant
alleles encode proteins with aberrant biochemical and functional properties. Here we will …
Abstract
Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Recently, germline mutations that affect components of the Ras–Raf–mitogen-activated and extracellular-signal regulated kinase kinase (MEK)–extracellular signal-regulated kinase (ERK) pathway were shown to cause several developmental disorders, including Noonan, Costello and cardio-facio-cutaneous syndromes. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties. Here we will discuss the implications of germline mutations in the Ras–Raf–MEK–ERK pathway for understanding normal developmental processes and cancer pathogenesis.
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