rs121913274, PIK3CA

N. diseases: 33
Disease: Pain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pain
CUI: C0030193
Disease: Pain
0.010 GeneticVariation BEFREE Next-generation sequencing analysis of 592 genes showed a missense mutation, p.E545A in PIK3CA, thus the patient was started on the mTOR inhibitor everolimus, in combination with exemestane, which controlled her pain; however, the disease progressed aggressively. 29790419 2018