Gene "BCL2"
Found 1 record
Gene information
Gene symbol:
BCL2
See related:
Ensembl: ENSG00000171791, Gene ID: 596
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • Variant 1:
    BCL2:c.-938C>A
    Gene:
    BCL2
    Genomic location:
    chr18:60986837
    dbSNP ID:
    rs2279115
    Target disease:
    Breast Cancer(DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    P=0.014 
    Effect:
    BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility
    Reference:
    PMID21457555
    Title:
    BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility.
    Species studied:
    Human
    Abstract:
    BCL-2 (B-cell leukemia/lymphoma 2) gene has been demonstrated to be associated with breast cancer development and a single nucleotide polymorphism (SNP; -938C > A) has been identified recently. To investigate whether this polymorphism functions as a modifier of breast cancer development, we analyzed the distribution of genotype frequency, as well as the association of genotype with clinicopathological characteristics. Furthermore, we also studied the effects of this SNP on Bcl-2 expression in vitro.