Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 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

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. 26484312

2015

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199

2010

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis. 20471942

2010

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Mutant p53 protein localized in the cytoplasm inhibits autophagy. 18818522

2008

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. 17311302

2007

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Functional protein microarrays for parallel characterisation of p53 mutants. 15221755

2004

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992

dbSNP: rs397514495
rs397514495
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
T 0.700 GeneticVariation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992