Malignant Melanoma

Pathway ID: SIGNOR-MMView in NDEx

Description: Melanoma is a skin cancer. It might exist as distinct subtypes associated with the activation of the MAPK and the PI3K pathways even if there is an association between distinct melanoma subtypes and molecular somatic events. Mucosal, acral, and to a lesser extent, lentigo malignant melanomas, can have increased copies of CDK4, and CCND1 (cyclinD), as well as mutations in KIT receptor. NRAS is mutated in about 18% of melanomas, and seems to be more frequently activated in nodular melanomas and melanomas due to chronic sun damage. BRAF has a recurrent V600E mutation (Gain of function) in about 50–70% of melanomas, however, this mutational event is frequently reported in benign pigmented naevi, and is not fully sufficient to induce a malignant transformation. MEK1 and MEK2 are downstream from RAS and RAF, on the same MAPK pathway. Activating mutations of MEK1 and MEK2 are found in 8% of melanomas. The PI3K pathway is activated through a PTEN loss-of-function mutation (most often deletion) in 20–40% of melanomas. Activating mutations or amplifications of PI3K or of AKT1 can also be found in some melanomas.

Curated by: Livia Perfetto

32 Seed Entities

Organism:
Name Primary ID
BCL2 P10415
KITLG P21583
BAD Q92934
E2F1 Q01094
GRB2 P62993
BCL2L1 Q07817
CREB1 P16220
BAX Q07812
NRAS P01111
Survival SIGNOR-PH13
BRAF P15056
UV stress SIGNOR-ST7
Proliferation SIGNOR-PH4
ERK1/2 SIGNOR-PF1
CyclinD/CDK4 SIGNOR-C18
SOS1 Q07889
AKT SIGNOR-PF24
BAK1 Q16611
PTEN P60484
MEK1/2 SIGNOR-PF25
MDM2 Q00987
RB1 P06400
RPS6KA5 O75582
MITF O75030
PDPK1 O15530
CDKN2A P42771
PIK3CA P42336
KIT P10721
PIP3 CHEBI:16618
Apoptosis SIGNOR-PH2
G1/S_transition SIGNOR-PH50
TP53 P04637