Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE The results obtained in this study suggest that Akti-1/2 might be a better inhibitor for the treatment of BC caused by the E17K mutation in AKT1. 31698236

2019
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897

2018
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients. 27515171

2016
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K). 27004402

2016
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation. 26351323

2015
dbSNP: rs121434592
rs121434592
AKT1
0.060 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070

2013