Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 24573247

2014
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR A young woman with bilateral breast cancer: identifying a genetic cause and implications for management. 23667202

2013
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. 23950206

2013
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Small molecule induced reactivation of mutant p53 in cancer cells. 23630318

2013
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR p53 mutations in cancer. 23263379

2013
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion. 23792586

2013
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma. 22919068

2012
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Mutant p53: one name, many proteins. 22713868

2012
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species. 22899716

2012
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526

2011
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188

2011
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 20693561

2011
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR Mutant p53(R175H) upregulates Twist1 expression and promotes epithelial-mesenchymal transition in immortalized prostate cells. 20689556

2011
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. 20234365

2010
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010