rs714
This is a intron variant variant in the DCC gene.
▶Research that mentions this SNP (1)
▶Systematic evaluation of bladder cancer risk‐associated single‐nucleotide polymorphisms in a chinese populationAssociationN=212Zhicheng Ma et al.(2013)· Molecular Carcinogenesis
Case-control study of PSCA rs2294008 C/T polymorphism in 107 South Indian urothelial bladder cancer patients and 105 controls. The CT heterozygous genotype conferred 2.77-fold increased risk (p<0.0001), and the T allele showed 3.35-fold risk (OR=3.349, p<0.0001). Risk was significantly elevated in smokers (OR CT/TT=2.374) and inversive tumors (OR CT/TT=2.658), suggesting rs2294008 as a susceptibility marker for bladder carcinogenesis.
About DCC
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
View all DCC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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