rs28934576, TP53

N. diseases: 78
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer. 31776133 2020
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Mutation R273H confers p53 a stimulating effect on the IGF-1R-AKT pathway via miR-30a suppression in breast cancer. 26898459 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Expression of mutant p53 (mtp53) R273H associates with increased cell elasticity, survival under serum deprivation conditions, and increased Poly (ADP ribose) polymerase 1 (PARP1) on the chromatin in the AA-derived TNBC breast cancer cell line MDA-MB-468. 26703669 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668 2011
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
0.010 GeneticVariation BEFREE To investigate whether CAF radiosensitization correlated with lack of wild-type (wt) p53, we studied transfected derivatives of an adenoma-derived cell line (PC/AA/C1), in which the endogenous wt p53 activity was disrupted by the expression of a dominant negative (273Arg-->His) p53 mutant protein (designated AA/273p53/B). 9815821 1997
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE In the current study, the combined loss of PAX2 and expression of the R273H p53 mutant protein in murine oviductal epithelial (MOE) cells enhanced proliferation and growth in soft agar in vitro but was insufficient to drive tumorigenesis in vivo. 27991925 2017
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE Heterozygous p53(R270H/+)WAPCre mice (with mammary gland-specific expression of the p53.R270H mutation, equivalent to human R273H, at physiologic levels) develop mammary tumors at high frequency, indicating that the R270H mutation predisposes for mammary gland tumor development and acts in a dominant-negative manner in early stages of tumorigenesis. 16166291 2005
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE These results indicate that mutant TP53 G245C and R273H can lead to more aggressive phenotypes and enhance cancer cell malignancy, which further uncover TP53 function in carcinogenesis and might be useful in clinical diagnosis and therapy of TP53 mutant cancers. 30126368 2018
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L, and R273H) on tumorigenesis by LNCaP prostate cancer cells. 16723121 2006
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.010 GeneticVariation BEFREE Various human p53 mutants (V143A, V173L, H179Q, N247I and R273H) were introduced to the TCC-SUP bladder carcinoma cell line to establish stable transfectants. 11435891 2001
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53RE). A comparative study between the p53REs of the MDM2, WAFI/Cip1 and Bax genes in the lung cancer environment. WAFI/Cip1 = WAF1/Cip1. 10226602 1999
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE H1299 p53 null lung cancer cells were stably transfected with R273H mutant GOF-p53 or wild-type (wt) p53 or empty vectors. 30723502 2019
Carcinoma, Spindle-Cell
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
0.010 GeneticVariation BEFREE Combining p53(R273H) with KRAS(G12V) activation caused transformation of MOE into high-grade sarcomatoid carcinoma when xenografted into nude mice. 25810107 2015
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.040 GeneticVariation BEFREE The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. 24399651 2014
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.040 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668 2011
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.040 GeneticVariation BEFREE To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP). 19139068 2009
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.040 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004 2018
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
0.020 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012