Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA. 19378321

2009
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 9598730

1998
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR The first documentation of Li-Fraumeni syndrome in Korea. 8527048

1995
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR A young woman with bilateral breast cancer: identifying a genetic cause and implications for management. 23667202

2013
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. 23950206

2013
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations. 9825943

1998
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Gain of function mutations in p53. 8099841

1993
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Mutant p53: one name, many proteins. 22713868

2012
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity. 24603336

2014
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. 17417627

2007
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. 8425176

1993
dbSNP: rs28934576
rs28934576
TP53
A 0.820 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000
dbSNP: rs28934576
rs28934576
TP53
A 0.820 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs28934575
rs28934575
TP53
A 0.810 CausalMutation CLINVAR Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. 24122735

2013
dbSNP: rs28934575
rs28934575
TP53
A 0.810 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015
dbSNP: rs28934575
rs28934575
TP53
A 0.810 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs28934575
rs28934575
TP53
A 0.810 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs28934575
rs28934575
TP53
A 0.810 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016