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rs78378222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;C) 3 cancer risk
(C;C) 3 cancer risk
ReferenceGRCh38 38.1/141
Chromosome17
Position7668434
GeneTP53
is asnp
is mentioned by
dbSNPrs78378222
ebirs78378222
HLIrs78378222
Exacrs78378222
Varsomers78378222
Maprs78378222
PheGenIrs78378222
hapmaprs78378222
1000 genomesrs78378222
hgdprs78378222
ensemblrs78378222
gopubmedrs78378222
geneviewrs78378222
scholarrs78378222
googlers78378222
pharmgkbrs78378222
gwascentralrs78378222
openSNPrs78378222
23andMers78378222
23andMe allrs78378222
SNP Nexus

SNPshotrs78378222
SNPdbers78378222
MSV3drs78378222
GWAS Ctlgrs78378222
GMAF0.00551
Max Magnitude3
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 21946351OA-icon.png] A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

[PMID 22706378OA-icon.png] Rare TP53 genetic variant associated with glioma risk and outcome

[PMID 23571737OA-icon.png] Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222

[PMID 23742673OA-icon.png] 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 24403052OA-icon.png]
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
Variation info
Gene TP53
CLNDBN Basal cell carcinoma, susceptibility to, 7 Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7571752T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000029217.2, RCV000205168.1,



[PMID 25907361] Further confirmation of germline glioma risk variant rs78378222 in TP53 and its implication in tumor tissues via integrative analysis of TCGA data