rs78378222
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | 3 | cancer risk |
| (C;C) | 3 | cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7668434 |
| Gene | TP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78378222 |
| dbSNP (classic) | rs78378222 |
| ClinGen | rs78378222 |
| ebi | rs78378222 |
| HLI | rs78378222 |
| Exac | rs78378222 |
| Gnomad | rs78378222 |
| Varsome | rs78378222 |
| LitVar | rs78378222 |
| Map | rs78378222 |
| PheGenI | rs78378222 |
| Biobank | rs78378222 |
| 1000 genomes | rs78378222 |
| hgdp | rs78378222 |
| ensembl | rs78378222 |
| geneview | rs78378222 |
| scholar | rs78378222 |
| rs78378222 | |
| pharmgkb | rs78378222 |
| gwascentral | rs78378222 |
| openSNP | rs78378222 |
| 23andMe | rs78378222 |
| SNPshot | rs78378222 |
| SNPdbe | rs78378222 |
| MSV3d | rs78378222 |
| GWAS Ctlg | rs78378222 |
| GMAF | 0.00551 |
| Max Magnitude | 3 |
10.1038/ng.926 rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10?17). rs78378222 is in the 3? untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3?-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10?6), glioma (OR = 2.35, P = 1.0 × 10?5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10?4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).
[PMID 26823150] Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
[PMID 27147571
] A novel TP53 variant (rs78378222 A > C) in the polyadenylation signal is associated with increased cancer susceptibility: evidence from a meta-analysis.
[PMID 27431420] rs78378222 polymorphism in the 3'-untranslated region of TP53 contributes to development of age-associated cataracts by modifying microRNA-125b-induced apoptosis of lens epithelial cells.
[PMID 21946351] A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
[PMID 22706378] Rare TP53 genetic variant associated with glioma risk and outcome
[PMID 23571737] Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222
[PMID 23742673] Association between a rare novel TP53 variant (rs78378222) and melanoma, squamous cell carcinoma of head and neck and lung cancer susceptibility in non-Hispanic Whites
[PMID 22800615] A functional germline variant in the P53 polyadenylation signal and risk of esophageal squamous cell carcinoma.
| GWAS snp | |
|---|---|
| PMID | [PMID 24403052]
|
| Trait | Basal cell carcinoma |
| Title | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. |
| Risk Allele | G |
| P-val | 4E-22 |
| Odds Ratio | 2.24 [1.90-2.64] |
| ClinVar | |
|---|---|
| Risk | Rs78378222(C;C) |
| Alt | Rs78378222(C;C) |
| Reference | Rs78378222(A;A) |
| Significance | Other |
| Disease | Basal cell carcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | TP53 |
| CLNDBN | Basal cell carcinoma, susceptibility to, 7 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7571752T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000029217.3, RCV000294347.1, RCV000412103.1, RCV000492363.1, |
[PMID 25907361] Further confirmation of germline glioma risk variant rs78378222 in TP53 and its implication in tumor tissues via integrative analysis of TCGA data
[PMID 32591342] Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.
[PMID 33240649] The rs78378222 prevalence and the copy loss of the protective allele A in the tumor tissue of diffuse large B-cell lymphoma.
[PMID 33558336] Germline and somatic genetic variants in the p53 pathway interact to affect cancer risk, progression, and drug response.
