Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780728
rs587780728
TP53
0.010 GeneticVariation BEFREE One family with LFS with a germline TP53 D49H mutation has previously been reported. 28902083

2018
dbSNP: rs730882028
rs730882028
TP53
0.010 GeneticVariation BEFREE A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. 30239254

2018
dbSNP: rs766786605
rs766786605
TP53
0.010 GeneticVariation BEFREE A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. 30239254

2018
dbSNP: rs78378222
rs78378222
TP53
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
dbSNP: rs587780072
rs587780072
TP53
0.010 GeneticVariation BEFREE Here, three mutations are described for the first time in ACC, and one, which occurred combined with a second mutation (R202C) on the same allele, has never been reported before in the context of LFS. 22170717

2012
dbSNP: rs770374782
rs770374782
TP53
0.020 GeneticVariation BEFREE One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data. 29077933

2018
dbSNP: rs770374782
rs770374782
TP53
0.020 GeneticVariation BEFREE Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. 19340432

2009
dbSNP: rs1131691014
rs1131691014
TP53
0.030 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143

2016
dbSNP: rs878854066
rs878854066
TP53
0.030 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143

2016
dbSNP: rs1131691014
rs1131691014
TP53
0.030 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2011
dbSNP: rs878854066
rs878854066
TP53
0.030 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2011
dbSNP: rs1131691014
rs1131691014
TP53
0.030 GeneticVariation BEFREE Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. 20198344

2010
dbSNP: rs878854066
rs878854066
TP53
0.030 GeneticVariation BEFREE Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. 20198344

2010
dbSNP: rs1042522
rs1042522
TP53
0.040 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143

2016
dbSNP: rs1042522
rs1042522
TP53
0.040 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2011
dbSNP: rs1042522
rs1042522
TP53
0.040 GeneticVariation BEFREE Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. 20198344

2010
dbSNP: rs1042522
rs1042522
TP53
0.040 GeneticVariation BEFREE A common single nucleotide repeat (snp) in exon 3 (rs1042522) and deletion sequencing chromatograms in exon 4 were examined in combination to estimate LOH in both LFS tubes and advanced serous carcinomas from the general population. 19834951

2010
dbSNP: rs868137297
rs868137297
TP53
T 0.700 GeneticVariation CLINVAR Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. 29752822

2019
dbSNP: rs1057519992
rs1057519992
TP53
C 0.700 GeneticVariation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 29324801

2018
dbSNP: rs1064795203
rs1064795203
TP53
C 0.700 GeneticVariation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs11575996
rs11575996
TP53
T 0.700 GeneticVariation CLINVAR Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 29324801

2018
dbSNP: rs786202962
rs786202962
TP53
T 0.700 CausalMutation CLINVAR Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. 29070607

2018
dbSNP: rs876660821
rs876660821
TP53
T 0.700 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs1064795203
rs1064795203
TP53
C 0.700 GeneticVariation CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279

2017