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:
acute lymphoblastic leukemia
low grade glioma
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