TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE Overall, 101 of 193 TP53 p.R337H mutation carriers with LFS from 58 families were cancer affected and, among them, thyroid carcinoma presented a prevalence of 10.9% (3 men and 8 women). 28114597 2017
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE Analysis of the patterns of 103 tumors diagnosed in 12 families showed that the presence of p.R337H is associated with multiple cancers of the Li-Fraumeni Syndrome (LFS) spectrum, with relatively low penetrance before the age of 30 but a lifetime risk comparable to classical LFS. 19877175 2010
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 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 2012
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE The p.R337H mutation in TP53 gene was found in one patient clinically diagnosed as HBOC and without clinical criteria for Li-Fraumeni syndrome. 30535581 2019
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. 30974190 2019
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. 25945745 2015
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature. 31748977 2020
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE The arginine to histidine substitution at amino acid position 337 of p53 (R337H) is a founder mutation highly prevalent in southern and southeastern Brazil and is considered an LFS mutation. 30042151 2018
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 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 2008
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.900 GeneticVariation BEFREE ChIP-Seq analysis of LFS lymphocytes carrying TP53 null mutations (p.P152Rfs*18 or complete deletion) or the low penetrant 'Brazilian' p.R337H mutation revealed a moderate decrease of p53-binding sites (949, 580 and 620, respectively) and of ChIP-Seq peak depths. 28369373 2017
dbSNP: rs121912651
rs121912651
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234 2008
dbSNP: rs121912651
rs121912651
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA. 19378321 2009
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors. 15977174 2005
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS. 18307025 2008
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931 2011
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively. 25787918 2015
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE Genetic analysis of the proband revealed a TP53 germline mutation in exon 5 determining a nucleotide alteration at codon 175 (R175H), a hot spot mutation site related to LFS and a reported pathogenic mutation. 27516001 2016
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.820 GeneticVariation BEFREE These findings suggest that p53-R175L retains sufficient activity to suppress LFS, but not adrenal cortical carcinoma. 16707427 2006
dbSNP: rs28934575
rs28934575
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.810 GeneticVariation BEFREE We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family. 12885464 2003
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.810 GeneticVariation BEFREE Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS). 17541742 2008
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.810 GeneticVariation BEFREE One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. 20455025 2010
dbSNP: rs587782529
rs587782529
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome
0.810 GeneticVariation BEFREE The novel somatic mutation, R337G (16900C>G), was discovered in myelodysplastic syndrome with transformation to acute myeloblastic leukemia, developing as the third primary in the LFS child. 19714490 2009