rs121434592, AKT1

N. diseases: 54
Disease: Breast Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients. 27515171 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation. 26351323 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013