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MIM.190020 11p15.5

Wednesday 14 April 2004


Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties.

- somatic mutations in:

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.

- germline mutations in Costello syndrome

  • Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.
  • germline mutations in HRAS perturb human development and increase susceptibility to tumors.

See also

- RAS genes (RASs): HRAS, KRAS (MIM.190070), NRAS (MIM.164790)
- Ras-Raf-MEK-ERK pathway


- Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007 Apr;7(4):295-308. PMID: 17384584

- Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet. 2005 Oct;37(10):1038-40. PMID: 16170316

- Parton RG, Hancock JF. Lipid rafts and plasma membrane microorganization: insights from Ras. Trends Cell Biol. 2004 Mar;14(3):141-7. PMID: 15003623