Variant "BCL2:c.-938C>A"
Search result: 1 record
Variant information
Gene:
BCL2 
Variant:
BCL2:c.-938C>A 
Genomic location:
chr18:60986837(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000633.2:c.-938C>A
protein_coding NM_000657.2:c.-938C>A
BCL2-KDSR:n.60986837G>T
dbSNP ID:
rs2279115  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • 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.