Variant "CELF4:c.287-11458C>T"
Search result: 1 record
Variant information
Gene:
CELF4 
Variant:
CELF4:c.287-11458C>T 
Genomic location:
chr18:35077028(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_020180.3:c.287-11458C>T
protein_coding NM_001025087.1:c.287-11458C>T
protein_coding NM_001025088.1:c.287-11458C>T
protein_coding NM_001025089.1:c.287-11458C>T
dbSNP ID:
rs1786814  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Cancer (DOID_162)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Variant in a noncoding region of CELF4 (rs1786814) conferred a tenfold increased risk for cardiomyopathy
    Reference:
    PMID29029584
    Title:
    Evidence for Genetic Risk Contributing to Long-Term Adverse Treatment Effects in Childhood Cancer Survivors.
    Species studied:
    Human
    Abstract:
    Survivors of childhood cancer are at increased risk for therapy-related morbidities and mortality. Although the demographic and clinical factors predicting the risk for long-term effects of cancer therapy are well known, the impact of genetic risk for specific late effects is less clearly defined. Here, we review the extant literature and recent research describing genetic modifiers to risk for the more common late effects of childhood cancer therapy. Results of this research support the need for clinical trials that attempt to further refine risk prediction by incorporating genetic testing into existing algorithms that are primarily based on clinical and demographic factors. Confirmation of genetic predisposition, as defined by reproducibility and prospective validation, would permit therapeutic modification and discussion of individualized survivor care plans even at initial cancer diagnosis.