Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897

2018
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897

2018
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 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: rs762292600
rs762292600
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 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: rs762292600
rs762292600
ESR1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Results In patients with AKT1 E17K-mutant tumors (n = 52) and a median of five lines of prior therapy, the median PFS was 5.5 months (95% CI, 2.9 to 6.9 months), 6.6 months (95% CI, 1.5 to 8.3 months), and 4.2 months (95% CI, 2.1 to 12.8 months) in patients with estrogen receptor-positive breast, gynecologic, and other solid tumors, respectively. 28489509

2017
dbSNP: rs762292600
rs762292600
ESR1
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer. 28489509

2017
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer. 28489509

2017
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 GeneticVariation BEFREE Results In patients with AKT1 E17K-mutant tumors (n = 52) and a median of five lines of prior therapy, the median PFS was 5.5 months (95% CI, 2.9 to 6.9 months), 6.6 months (95% CI, 1.5 to 8.3 months), and 4.2 months (95% CI, 2.1 to 12.8 months) in patients with estrogen receptor-positive breast, gynecologic, and other solid tumors, respectively. 28489509

2017
dbSNP: rs762292600
rs762292600
ESR1
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation BEFREE Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis. 27004402

2016