Annotation Detail

Information
Associated Genes
IL6
Associated Variants
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
Carcinoma breast stage IV
Source Database
DisGeNET
Description
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline single nucleotide polymorphism (SNP), MET-T1010I, in many cancer lineages including breast cancer where the MET-T1010I SNP is present in 2% of patients with metastatic breast cancer.
Pubmed
25605252
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2014
Drugs