Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. 26230955

2015
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines. 22540896

2012
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines. 22540896

2012
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival. 18628487

2008
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation 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: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation 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: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function. 16209708

2005
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function. 16209708

2005
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs876660821
rs876660821
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003