rs8073069
This variant is located in the BIRC5 gene.
▶Research that mentions this SNP (1)
▶Association between survivin -31G>C polymorphism and cancer risk: meta-analysis of 29 studiesMeta-analysisN=16,559Qin Qin et al.(2014)· Journal of Cancer Research and Clinical Oncology
Meta-analysis of 29 studies (7,473 cancer cases, 9,086 controls) investigating the survivin -31G>C polymorphism (rs9904341) and cancer risk. The CC variant genotype was significantly associated with increased cancer risk overall (OR=1.37, 95% CI 1.06-1.76) and was particularly associated with colorectal, gastric, and urothelial cancers in Asian populations, while paradoxically showing protective effects against hepatocellular carcinoma.
About BIRC5
This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
View all BIRC5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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