Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Gestational choriocarcinoma associated with a germline TP53 mutation. 28477316

2018

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 28369373

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 26911350

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 27223487

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Tetramer formation of tumor suppressor protein p53: Structure, function, and applications. 26572807

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR The Inherited p53 Mutation in the Brazilian Population. 27663983

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Gain of function of mutant p53: R282W on the peak? 26878390

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Occurrence of Neuroblastoma among TP53 p.R337H Carriers. 26452166

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. 26484312

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature. 26681051

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. 25433984

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients. 25619955

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 25787918

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.100 GeneticVariation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579

2014