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.
- colorectal adenocarcinoma
- bladder carcinoma
- thyroid follicular carcinoma
- Spit nevus / Spitzoid tumors
- malignant ectomesenchymoma (26872011)
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.
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