ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 Biomarker disease BEFREE Among the 916 driver mutations found in breast cancers, 813 (88.8%) were linked to E2-ESR1 compared with 2,046 of 3,833 in AML (53.4%).<b>Conclusions:</b> Risk assessment revealed that mutations in estrogen-regulated genes are much more likely to be associated with elevated breast cancer risk, while mutations in unregulated genes are more likely to be associated with AML.<b>Impact:</b> These results increase the plausibility that estrogens promote breast cancer development. 29789325 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 PosttranslationalModification disease LHGDN Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia. 18569637 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 Biomarker disease BEFREE To study this issue, the methylation status of 14 promoter-associated CpG islands was analyzed in 36 cases of AML previously characterized for estrogen-receptor methylation (ERM). 11313277 2001
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 PosttranslationalModification disease BEFREE Estrogen receptor methylation (ERM) is a frequent molecular alteration in adult acute myeloid leukemia (AML). 10353741 1999