Variant "DPYD:c.2623-38806T>C"
Search result: 1 record
Variant information
Gene:
DPYD 
Variant:
DPYD:c.2623-38806T>C 
Genomic location:
chr1:97602994(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000110.3:c.2623-38806T>C
pseudogene NR_046590.1:n.64+41452A>G
dbSNP ID:
rs1760217  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor and Altered life span(1)  
Detail：
  • Target disease:
    Pancreatic Cancer (DOID_1793)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor and Altered life span 
    Evidence:
    P=0.0013 
    Effect:
    Significant associations between mutation and overall survival in pancreatic cancer, as well as survival interactions between various genes and radiotherapy and chemotherapy.
    Reference:
    PMID21487324
    Title:
    Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer.
    Species studied:
    Human
    Abstract:
    Germ-line genetic variation may affect clinical outcomes of cancer patients. We applied a candidate-gene approach to evaluate the effect of putative markers on survival of patients with pancreatic cancer. We also examined gene-radiotherapy and gene-chemotherapy interactions, aiming to explain interindividual differences in treatment outcomes.