GAB2
Overview
GAB2 (GRB2-Associated Binding Protein 2) encodes a scaffolding adapter protein that amplifies signals from multiple receptor tyrosine kinases and is recruited downstream of RAS and PI3K pathways. GAB2 amplification has been implicated in melanoma, particularly in acral lentiginous melanoma (ALM), where it may drive alternative MAPK or PI3K pathway activation.
Alterations observed in the corpus
- GAB2 amplification was discussed as a previously reported focal copy number gain in acral lentiginous melanoma (ALM), cited from prior literature in the context of identifying recurrent ALM-specific alterations PMID:28373299
Cancer types (linked)
- Acral lentiginous melanoma (ALM): GAB2 amplification cited as a recurrent event reported in prior ALM studies, referenced as a known ALM alteration in a WGS/RNA-seq pan-genomic cohort study PMID:28373299
Co-occurrence and mutual exclusivity
- GAB2 amplification discussed alongside CCND1 amplification as characteristic prior-reported events in ALM PMID:28373299
Therapeutic relevance
- No direct therapeutic implications reported in the corpus for GAB2 alterations at this time; potential relevance to PI3K/MAPK pathway targeting in ALM warrants further study.
Open questions
- Functional validation of GAB2 amplification as a driver versus passenger event in ALM is needed, particularly in the context of BRAF/NRAS/NF1 wild-type subgroups PMID:28373299
Sources
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