rs121434592, AKT1

N. diseases: 54
Disease: Oestrogen receptor positive breast cancer ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oestrogen receptor positive breast cancer
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
0.010 GeneticVariation BEFREE Both assays are employed at centralized testing laboratories operating according to quality standards for prospective identification of the AKT1 E17K mutation in ER+ breast cancer patients in the context of a clinical trial evaluating the AKT inhibitor AZD5363 in combination with endocrine (fulvestrant) therapy. 28472036 2017