rs17884306
This is a 3 prime utr variant variant in the TP53 gene.
▶ClinVar annotation
Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1 (LFS)
View on ClinVar →▶Research that mentions this SNP (2)
▶Genetic variants in the liver kinase B1‐AMP‐activated protein kinase pathway genes and pancreatic cancer riskMeta-analysisN=15,418Xinyuan Xu et al.(2019)· Molecular Carcinogenesis
Meta-analysis of genetic variants in LKB1-AMPK pathway genes identifies six novel SNPs associated with pancreatic cancer risk in 15,418 European ancestry participants from PanScan and PanC4 cohorts. The study found that MAP2 rs35075084 (T>deletion), PRKAG2 rs2727572 (C>T) and rs34852782 (A>deletion), TP53 rs9895829 (A>G), and RPTOR rs62068300 (G>A) and rs3751936 (G>C) were significantly associated with increased pancreatic cancer risk (OR=1.24, 95% CI=1.16-1.32 for carriers with 5-6 unfavorable genotypes, P<0.0001). Expression quantitative trait loci analysis revealed these variants influence mRNA expression levels of their corresponding genes.
▶Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech RepublicAssociationN=1,228Polakova V. et al.(2009)· Human Mutation
Case-control study of 614 colorectal cancer patients and 614 matched controls in the Czech Republic examining TP53, CDKN1A, and CDKN2A polymorphisms. While individual SNPs showed no associations, TP53 haplotype analysis revealed significant results (global P<0.0001), with the A(2)CCG haplotype showing increased risk (OR=1.40) and five other haplotypes showing decreased risk.
About TP53
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
View all TP53 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…