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RAS pathway-associated diseases

Wednesday 28 March 2012

RAS signaling pathway diseases

Noonan syndrome (NS), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and LEOPARD syndrome (now also referred to as Noonan syndrome with multiple lentigines or NSML) are clinically overlapping dominant disorders that are caused by mutations in RAS signaling pathway genes.

The spectrum of cancer susceptibility:
- neuroblastoma
- acute lymphoblastic leukemia
- low grade glioma
- embryonal rhabdomyosarcoma
- myeloproliferative disease
- bladder cancer

See also

- RASs genes

  • HRAS
  • KRAS

References

- Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Am J Med Genet C Semin Med Genet. 2011 May 15;157(2):83-9. PMID: #21500339#