rs55832599, TP53

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE The effects of the mutations were rationalized based on homology modeling of the Dmp53 DNA-binding domain, suggesting that the drastically different effects of a cancer mutation in the loop-sheet-helix motif (R282W in Hp53 and R268W in Dmp53) on stability and DNA binding affinity of the two proteins are related to conformational differences in the L1 loop adjacent to the mutation site. 23135266 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE The effects of the mutations were rationalized based on homology modeling of the Dmp53 DNA-binding domain, suggesting that the drastically different effects of a cancer mutation in the loop-sheet-helix motif (R282W in Hp53 and R268W in Dmp53) on stability and DNA binding affinity of the two proteins are related to conformational differences in the L1 loop adjacent to the mutation site. 23135266 2012
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Increased oxidative metabolism in the Li-Fraumeni syndrome. 23484829 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 GeneticVariation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Neurilemmoma
CUI: C0027809
Disease: Neurilemmoma
0.010 GeneticVariation BEFREE Two family members without a TP53 germline mutation who developed peripheral schwannomas also carried the MSH4 germline mutation, and in addition, a germline mutation of the LATS1 gene (c.286C>T; p.R96W). 25041856 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 28573494 2017