Variant "CYP1A1:c.T3810C"
Search result: 1 record
Variant information
Gene:
CYP1A1 
Variant:
CYP1A1:c.T3810C 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Hereditary nonpolyposis colon cancer (Orphanet_443909)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    The polymorphism in CYP1A1 (T3810C) is associated with an increased risk of colorectal cancer
    Reference:
    PMID17119063
    Title:
    Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients.
    Species studied:
    Human
    Abstract:
    Hereditary nonpolyposis colorectal cancer (HNPCC) is associated with germ-line mutations in DNA mismatch repair genes. There is considerable variation in disease expression that cannot be explained by genotype/phenotype correlation, which is likely to be the result of polymorphic modifier genes. One candidate group of modifiers is the xenobiotic clearance enzyme genes that encode CYP1A1, GSTM1, GSTT1, GSTP1, and NAT2. Alterations in these xenobiotic clearance genes can potentially influence the host response to carcinogen exposure and thereby alter cancer risk. We have investigated eight polymorphisms in xenobiotic clearance genes to assess the effect on the risk of disease in mutation positive HNPCC patients.