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Nat Rev Cancer. 2007 Apr;7(4):295-308.

Hyperactive Ras in developmental disorders and cancer.

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Department of Pediatrics, University of California, 513 Parnassus Avenue, Room HSE-302, San Francisco, California 94143, USA.

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  • Nat Rev Cancer. 2007 Jul;7(7):563.


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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