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