AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients. 27515171 2016
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation. 26351323 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055 2008
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation UNIPROT