|
Glioma
|
|
0.720 |
GeneticVariation
|
BEFREE |
As rs78378222 changes the polyadenylation signal of TP53 leading to impaired 3'-end processing of TP53 mRNA, the SNP has strong plausibility for being directly functional contributing to the aetiological basis of glioma.
|
23571737 |
2013 |
|
Glioma
|
|
0.720 |
GeneticVariation
|
BEFREE |
The rs78378222 SNP is the first confirmed rare susceptibility variant in glioma.
|
22706378 |
2012 |
|
Glioblastoma Multiforme
|
|
0.710 |
GeneticVariation
|
BEFREE |
The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours.
|
23571737 |
2013 |
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Lean body mass
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
|
30593698 |
2019 |
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
White Blood Cell Count procedure
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, several studies have investigated the association between a newly reported rare functional single nucleotide polymorphism (SNP) in TP53 (rs78378222) and cancer risk, but generated inconsistent findings.
|
23742673 |
2013 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
|
26823150 |
2016 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
|
26823150 |
2016 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
The results indicated that TP53 rs78378222 was significantly associated with an increased risk of overall canc</span>er (AC vs. AA: OR = 1.511, 95% CI = 1.285-1.777).
|
27147571 |
2016 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
The results indicated that TP53 rs78378222 was significantly associated with an increased risk of overall canc</span>er (AC vs. AA: OR = 1.511, 95% CI = 1.285-1.777).
|
27147571 |
2016 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, several studies have investigated the association between a newly reported rare functional single nucleotide polymorphism (SNP) in TP53 (rs78378222) and cancer risk, but generated inconsistent findings.
|
23742673 |
2013 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data.
|
25907361 |
2015 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A noncoding polymorphism (rs78378222) in TP53, carried by scores of millions of people, was previously associated with moderate risk of brain tumors and other neoplasms.
|
31699989 |
2019 |
|
Benign Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
23742673 |
2013 |
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings add neuroblastoma to the complex repertoire of human cancers influenced by the rs78378222 hypomorphic allele, which impairs proper termination and polyadenylation of TP53 transcripts.
|
24634504 |
2014 |
|
Nervous System Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, stratified analyses indicated that rs78378222 increased the risk of nervous system cancer, skin cancer and other cancer.
|
27147571 |
2016 |
|
Brain Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
A noncoding polymorphism (rs78378222) in TP53, carried by scores of millions of people, was previously associated with moderate risk of brain tumors and other neoplasms.
|
31699989 |
2019 |
|
Squamous cell carcinoma of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results suggest that this functional uncommon P53 rs78378222 variant is associated with ESCC risk in the current Han Chinese population.
|
22800615 |
2012 |
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
23742673 |
2013 |
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
23742673 |
2013 |
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
27431420 |
2016 |
|
Li-Fraumeni Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we identified rs78378222 (A > C), a rare variant that is located in the 3' untranslated region (3' UTR) of TP53, in 7 probands (5.4%) of a cohort from LFS/LFL patients without TP53 germline mutations in the coding regions.
|
26823150 |
2016 |