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 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 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 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 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 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
0.710 GeneticVariation BEFREE 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 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
A 0.710 GeneticVariation CLINVAR Structure and functionality of a designed p53 dimer. 11254385

2001

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: rs730881687
rs730881687
T 0.700 CausalMutation CLINVAR Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. 31349801

2019

dbSNP: rs80338682
rs80338682
T 0.700 CausalMutation CLINVAR Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. 26581862

2019

dbSNP: rs80359066
rs80359066
C 0.700 GeneticVariation CLINVAR Genomic Heterogeneity Within Individual Prostate Cancer Foci Impacts Predictive Biomarkers of Targeted Therapy. 29398457

2019

dbSNP: rs80359527
rs80359527
TA 0.700 CausalMutation CLINVAR Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis. 27721756

2019

dbSNP: rs1131690832
rs1131690832
T 0.700 CausalMutation CLINVAR Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200

2018