Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. 20478780

2010
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918

2006
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 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: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome. 9704931

1998
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members. 9704930

1998
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family. 9150393

1997