Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Recurrent TP53 missense mutation in cancer patients of Arab descent. 27866339

2017
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. 28486781

2017
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 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
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Increased oxidative metabolism in the Li-Fraumeni syndrome. 23484829

2013
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 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: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199

2010
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs587782596
rs587782596
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992