Gene: TP53 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747342068
rs747342068
TP53
0.710 GeneticVariation BEFREE She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma. 18989156

2008
dbSNP: rs28934576
rs28934576
TP53
0.710 GeneticVariation BEFREE Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma. 16096528

2005
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. 27663983

2016
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE Screening for the p.R337H mutation identified 11 carriers (3.7%), 9 of whom were diagnosed with adrenocortical carcinomas (ACC) and 2 of whom were diagnosed with choroid plexus carcinomas. 24122735

2013
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE R337H has been identified in Brazilian families with Li-Fraumeni or related syndromes predisposing to cancers in childhood (ie, brain, renal, and adrenocortical carcinomas), adolescence (ie, soft tissue and bone sarcomas), and young adulthood (ie, breast cancer). 19717094

2009
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE Families with the R337H mutation presented a wide spectrum of tumours, including breast cancers (30.4%), brain cancers (10.7%), soft tissue sarcomas (10.7%) and adrenocortical carcinomas (8.9%). 16494995

2007
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE The TP53 R337H mutation dramatically increases predisposition to childhood ACT but not to other cancers, and explains the increased frequency of ACT observed in this geographic region. 16033918

2006
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of children with adrenocortical carcinoma in Southern Brazil. 15878142

2005
dbSNP: rs121912664
rs121912664
TP53
0.070 GeneticVariation BEFREE The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions. 12634062

2003
dbSNP: rs751477326
rs751477326
TP53
0.010 GeneticVariation BEFREE Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker. 20421238

2010
dbSNP: rs375338359
rs375338359
TP53
0.010 GeneticVariation BEFREE The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries. 19714490

2009
dbSNP: rs587782529
rs587782529
TP53
0.010 GeneticVariation BEFREE p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. 19714490

2009
dbSNP: rs730882029
rs730882029
TP53
0.010 GeneticVariation BEFREE The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries. 19714490

2009
dbSNP: rs1060501205
rs1060501205
TP53
0.010 GeneticVariation BEFREE She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma. 18989156

2008
dbSNP: rs121912667
rs121912667
TP53
0.010 GeneticVariation BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572

2008
dbSNP: rs28934578
rs28934578
TP53
0.010 GeneticVariation BEFREE We have identified a novel germ line variant of the 175 mutant (Arg to Leu; R175L) in a pediatric patient who developed adrenal cortical carcinoma. 16707427

2006