Signaling by MAP2K mutants

Stable Identifier
R-HSA-9652169
Type
Pathway
Species
Homo sapiens
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Activating mutations in MAP2K1 and MAP2K2, the genes encoding MEK1 and MEK2, have been identified at low frequency in a variety of cancers as well as in germline diseases such as Noonan syndrome, cardiofaciocutaneous syndromes and other RASopathies (reviewed in Samatar and Poulikakos, 2014; Bezniakow et al, 2014; Rauen, 2013).

Literature References
PubMed ID Title Journal Year
25435214 Targeting RAS-ERK signalling in cancer: promises and challenges

Samatar, AA, Poulikakos, PI

Nat Rev Drug Discov 2014
25182392 The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes

Bezniakow, N, Gos, M, Obersztyn, E

Dev Period Med 2014
23875798 The RASopathies

Rauen, KA

Annu Rev Genomics Hum Genet 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
cardiofaciocutaneous syndrome 0060233 CFC syndrome, cardio-facial-cutaneous syndrome
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Reviewed
Created
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