Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation BEFREE Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual's lifetime. 28861920

2018

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation BEFREE Li-Fraumeni Syndrome (LFS) results from heterozygous germline mutations of TP53, encoding a key transcriptional factor activated in response to DNA damage. 28369373

2018

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation BEFREE We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in <i>CDKN2A</i> tumour suppressor gene. 28592523

2018

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GeneticVariation BEFREE TP53 Mutations and Survival in Osteosarcoma Patients: A Meta-Analysis of Published Data. 27239089

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GeneticVariation BEFREE Novel siRNA formulation to effectively knockdown mutant p53 in osteosarcoma. 28636657

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 PosttranslationalModification BEFREE Thus, TP53 rearrangements are the major mechanism of p53 inactivation in osteosarcoma. 26672768

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 GeneticVariation BEFREE Integrative genome analysis of somatic p53 mutant osteosarcomas identifies Ets2-dependent regulation of small nucleolar RNAs by mutant p53 protein. 29021240

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 AlteredExpression BEFREE RRP12 is a crucial nucleolar protein that regulates p53 activity in osteosarcoma cells. 26499779

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker CLINGEN The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. 28649662

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation BEFREE Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. 28218344

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR There was considerable heterogeneity in the TP53 mutations and tumor spectrum in Korean patients with LFS. 27374712

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation BEFREE Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. 28114597

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. 27276934

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR TP53 mutations in older adults with acute myeloid leukemia. 26781615

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. 27726232

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation 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

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker BEFREE Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. 28818333

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer. 27179933

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation BEFREE Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. 29076966

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 CausalMutation CLINVAR Genetic testing revealed LFS, with a germline TP53 mutation, and pedigree analysis identified 9 first-degree and second-degree relatives with hematologic malignancies. 27726232

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2017