Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR The p53-reactivating small molecule RITA induces senescence in head and neck cancer cells. 25119136

2014

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 23538418

2013

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR TP53 mutations and polymorphisms in primary myelofibrosis. 22052707

2012

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 21232794

2011

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464

2003

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 7783166

1995

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.800 CausalMutation CLINVAR Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990

dbSNP: rs121912656
rs121912656
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121912656
rs121912656
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE We show here that overexpression of the GOF mutant p53 G245D and other GOF p53 mutants enhances the invasive cell growth of p53-deficient head and neck squamous cell carcinoma (HNSCC) UM-SCC-1 cells both in in vitro three-dimensional culture and in an in vivo orthotopic nude mouse model of HNSCC through a novel transcription-independent mechanism. 29269868

2018