Gene: TP53 ×
Source: ALL
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 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs28934578
rs28934578
TP53
T 0.820 CausalMutation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712

2016
dbSNP: rs28934578
rs28934578
TP53
0.820 GeneticVariation BEFREE Genetic analysis of the proband revealed a TP53 germline mutation in exon 5 determining a nucleotide alteration at codon 175 (R175H), a hot spot mutation site related to LFS and a reported pathogenic mutation. 27516001

2016
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases. 24702488

2015
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation BEFREE Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively. 25787918

2015
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs28934576
rs28934576
TP53
A 0.820 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity. 24603336

2014
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs28934576
rs28934576
TP53
T 0.820 CausalMutation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579

2014
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 Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. 23950206

2013
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: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

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

2013
dbSNP: rs28934576
rs28934576
TP53
0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

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