Variant "ESR1:c.1788G>A(p.Thr596Thr)"
Search result: 1 record
Variant information
Gene:
ESR1 
Variant:
ESR1:c.1788G>A(p.Thr596Thr) 
Genomic location:
chr6:152420095(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001291230.1:c.1788G>A(p.Thr596Thr)
protein_coding NM_001122742.1:c.1782G>A(p.Thr594Thr)
protein_coding NM_001122741.1:c.1782G>A(p.Thr594Thr)
protein_coding NM_001122740.1:c.1782G>A(p.Thr594Thr)
protein_coding NM_000125.3:c.1782G>A(p.Thr594Thr)
protein_coding NM_001291241.1:c.1779G>A(p.Thr593Thr)
protein_coding NM_001328100.1:c.851-26306G>A
show all
dbSNP ID:
rs2228480  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Sporadic Breast Cancer (DOID_8029)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    OR=2.13; 95% CI: 1.189-3.816 
    Effect:
    The rs2228480 and rs4986938 variants did not alter sporadic BC risk, but they did modulate the BC severity.
    Reference:
    PMID28109853
    Title:
    Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer.
    Species studied:
    Human
    Abstract:
    Reproductive factors pose a risk for sporadic breast cancer (BC) development owing to the lifetime exposure to estrogen, a hormone responsible for cell proliferation in the breast. Because variants of the estrogen receptor (ER) alpha and beta genes have been associated with BC risk in numerous populations, the objective of the study was to determine whether the risk and severity of sporadic BC was associated with the rs2228480 (ESR1) and rs4986938 (ESR2) variants in a Brazilian population.