Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
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
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
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
G 0.900 GeneticVariation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241

2009

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

2006

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR Geographical variations in TP53 mutational spectrum in ovarian carcinomas. 16907706

2006

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150

2005

dbSNP: rs121912664
rs121912664
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
G 0.900 GeneticVariation 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
G 0.900 GeneticVariation CLINVAR p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma. 12209975

2002

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers. 10719737

2000

dbSNP: rs121912664
rs121912664
T 0.900 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000

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

1998

dbSNP: rs121912666
rs121912666
C 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018

dbSNP: rs28934576
rs28934576
T 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018

dbSNP: rs28934578
rs28934578
T 0.820 CausalMutation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017

dbSNP: rs28934578
rs28934578
T 0.820 CausalMutation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712

2016

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

2015

dbSNP: rs121912666
rs121912666
C 0.820 CausalMutation CLINVAR Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases. 24702488

2015

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

2015

dbSNP: rs28934576
rs28934576
T 0.820 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015

dbSNP: rs121912651
rs121912651
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: rs28934576
rs28934576
T 0.820 CausalMutation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579

2014