Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 28472496

2017

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes. 27714481

2017

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368

2016

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. 26823150

2016

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay. 25736369

2015

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. 25945745

2015

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature. 26681051

2015

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. 27081505

2014

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. 24936644

2014

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient. 23570263

2013

dbSNP: rs121912664
rs121912664
A 0.710 GeneticVariation CLINVAR Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation. 20978130

2011

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. 19877175

2010

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. 18248785

2008

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007

dbSNP: rs121912664
rs121912664
A 0.710 GeneticVariation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150

2005

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. 11753428

2002

dbSNP: rs121912664
rs121912664
T 0.710 CausalMutation CLINVAR An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. 11481490

2001

dbSNP: rs121912664
rs121912664
A 0.710 GeneticVariation CLINVAR Structure and functionality of a designed p53 dimer. 11254385

2001

dbSNP: rs11575996
rs11575996
T 0.700 GeneticVariation CLINVAR Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 29324801

2018

dbSNP: rs28934874
rs28934874
A 0.700 GeneticVariation CLINVAR Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 29324801

2018

dbSNP: rs371524413
rs371524413
T 0.700 GeneticVariation CLINVAR TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma. 28477317

2018

dbSNP: rs1057519747
rs1057519747
T 0.700 GeneticVariation CLINVAR Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle. 27730344

2017

dbSNP: rs1064795203
rs1064795203
C 0.700 GeneticVariation CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279

2017

dbSNP: rs11540652
rs11540652
T 0.700 CausalMutation CLINVAR Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors. 27683180

2017