rs28934576, TP53

N. diseases: 78
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE P53-R273H mutation enhances colorectal cancer stemness through regulating specific lncRNAs. 31455383 2019
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma. 30126368 2018
Squamous cell carcinoma of penis
CUI: C0238348
Disease: Squamous cell carcinoma of penis
0.010 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
Tumor Initiation
CUI: C0598935
Disease: Tumor Initiation
0.010 GeneticVariation BEFREE We show that p53-R273H-mediated DLX2 repression leads to upregulation of Neuropilin-2 (NRP2), a multifunctional co-receptor involved in tumor initiation, growth, survival and metastasis. p53-R273H-induced cell mobility is effectively suppressed by DLX2 expression. 28796261 2017
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE Targeting CD24 provides a strategy to enhance mutant p53-restoring therapies, especially in patients with TP53(R273H) prostate cancer. 26712693 2016
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Silencing of CD24 enhanced restoration of PRIMA-1-induced mutant p53 in endogenous TP53(P223L/V274F) DU145 cells and in PC3 cells transfected with TP53(R273H) CONCLUSIONS: In human prostate cancers, there is CD24-dependent inactivation of mutant p53. 26712693 2016
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE This study supports using the biological markers of high expression of mtp53 R273H or R248Q as additional diagnostics for TNBC resistant subtypes often found in the AA community. 26703669 2015
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE This study supports using the biological markers of high expression of mtp53 R273H or R248Q as additional diagnostics for TNBC resistant subtypes often found in the AA community. 26703669 2015
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
Lichen Sclerosus et Atrophicus
CUI: C0023652
Disease: Lichen Sclerosus et Atrophicus
0.010 GeneticVariation BEFREE In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence of epidermal p53 clones in LS whose presence and number significantly correlated with the presence of TP53 C742T and G818C mutations. 17554370 2007
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells. 17636407 2007
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE A single missense mutation at codon 157 (Val to Phe) in exon 5 and at codon 273 (Arg to Pro) in exon 8 was found respectively in 2 DLBLs and in one peripheral T-cell lymphoma (unspecified). 17609875 2007
Peripheral T-Cell Lymphoma
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
0.010 GeneticVariation BEFREE A single missense mutation at codon 157 (Val to Phe) in exon 5 and at codon 273 (Arg to Pro) in exon 8 was found respectively in 2 DLBLs and in one peripheral T-cell lymphoma (unspecified). 17609875 2007
Skin Neoplasms
CUI: C0037286
Disease: Skin Neoplasms
0.010 GeneticVariation BEFREE Here, we show, using conditional mouse technology, that epithelium-specific heterozygous expression of mutant p53 (i.e., the p53.R270H mutation that is equivalent to the human hotspot R273H) results in an increased incidence of spontaneous and UVB-induced skin tumors. 17510390 2007
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells. 17636407 2007
Mammary gland tumor
CUI: C4087397
Disease: Mammary gland tumor
0.010 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
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
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
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE We also found that wild-type, but not Arg273His mutant p53 inhibits XPD (Rad3) and XPB DNA helicase activities. 7663514 1995
Leukemia, T-Cell
CUI: C0023492
Disease: Leukemia, T-Cell
0.010 GeneticVariation BEFREE One patient had no p53 mutation in his leukemic cells during chronic phase of ATL, but had a homozygous point mutation at codon 273 (Arg to His) when he progressed to acute ATL. 1730092 1992
Adult T-Cell Lymphoma/Leukemia
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
0.010 GeneticVariation BEFREE One patient had no p53 mutation in his leukemic cells during chronic phase of ATL, but had a homozygous point mutation at codon 273 (Arg to His) when he progressed to acute ATL. 1730092 1992
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.020 GeneticVariation BEFREE Together, these results reveal an important role for DLX2-NRP2 in p53-R273H</span>-induced cell mobility and tumor metastasis. 28796261 2017
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE Together, these results reveal an important role for DLX2-NRP2 in p53-R273H</span>-induced cell mobility and tumor metastasis. 28796261 2017
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
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
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