Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918

2006
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. 23733769

2013
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members. 9704930

1998
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome. 21192060

2011
dbSNP: rs121912664
rs121912664
TP53
T 0.900 CausalMutation CLINVAR Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? 19717094

2009
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: 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 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 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 Gain of function mutations in p53. 8099841

1993
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 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 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 The first documentation of Li-Fraumeni syndrome in Korea. 8527048

1995
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 Mutant p53: one name, many proteins. 22713868

2012
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 p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. 17417627

2007
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 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