Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. 28114597

2017

dbSNP: rs121912664
rs121912664
0.760 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE We compared the CNV profiles of controls, and LFS individuals carrying either p.R337H or DNA binding domain (DBD) TP53 mutations by high resolution array-CGH. 23259501

2013

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE 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
0.760 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE Mutation of Arg337 to histidine in the tetramerization domain of p53 is most frequently observed in Li-Fraumeni syndrome. 20605095

2010

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241

2009

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome. 19046423

2009

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

2009

dbSNP: rs121912664
rs121912664
0.760 GeneticVariation BEFREE These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple cancers and occurs in the population of Southern Brazil at a frequency 10-20 times higher than other TP53 mutants commonly associated with LFS. 18248785

2008

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

2007

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

2006

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

2006

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

2005

dbSNP: rs121912664
rs121912664
0.760 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
0.760 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
0.760 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
0.760 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
0.760 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000

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

1998

dbSNP: rs11540654
rs11540654
0.730 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs11540654
rs11540654
0.730 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2014

dbSNP: rs11540654
rs11540654
0.730 CausalMutation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587

2014

dbSNP: rs11540654
rs11540654
0.730 CausalMutation CLINVAR Validation of a yeast functional assay for p53 mutations using clonal sequencing. 23897043

2014

dbSNP: rs11540654
rs11540654
0.730 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2012