Gene Information
tumor protein p53 [Source:HGNC Symbol;Acc:HGNC:11998]
TP53 variants are associated with 19 diseases including adrenal cortex carcinoma and small cell lung carcinoma and 17 others, with 48 documented clinical phenotypes.
The TP53 gene is associated with 19 medical conditions, including:
adrenal cortex carcinoma
MONDO:0006639
small cell lung carcinoma
MONDO:0008433
Cushing disease due to pituitary adenoma
MONDO:0009050
choroid plexus carcinoma
MONDO:0016718
adult hepatocellular carcinoma
MONDO:0016216
bone osteosarcoma
MONDO:0002629
hereditary breast ovarian cancer syndrome
MONDO:0003582
Li-Fraumeni syndrome
MONDO:0018875
choroid plexus papilloma
MONDO:0009837
essential thrombocythemia
MONDO:0005029
pleomorphic rhabdomyosarcoma
MONDO:0017386
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
MONDO:0035940
... and 7 more diseases
Research has identified 48 phenotypic features associated with TP53 variants:
Autosomal dominant inheritance
HP:0000006
Prostate cancer
HP:0012125
Breast carcinoma
HP:0003002
Colon cancer
HP:0003003
Micronodular cirrhosis
HP:0001413
Typified by somatic mosaicism
HP:0001442
Delayed skeletal maturation
HP:0002750
Growth delay
HP:0001510
Oral leukoplakia
HP:0002745
Reticular hyperpigmentation
HP:0007588
Global developmental delay
HP:0001263
Choriocarcinoma
HP:0100768
Soft tissue sarcoma
HP:0030448
Autosomal dominant inheritance
HP:0000006
Nail dystrophy
HP:0008404
ClinVar contains 10 variants associated with TP53. Below are some notable variants:
There are 17,342 publications about TP53 indexed in PubMed. Below are some recent papers:
Complex diagnosis and management of metastatic esophagogastric junction adenocarcinoma with colonic and meningeal involvement.
Spricido IY, Bignoto TC, Vazquez YG
PMID: 41259497
•
2025
•
Einstein (Sao Paulo)
Tumor cell-specific loss of GPX4 reprograms triacylglycerol metabolism to escape ferroptosis and impair antitumor immunity in NSCLC.
Wang P, Zhang S, Chen X
PMID: 41259048
•
2025 Nov 19
•
Protein Cell
Putrescine functions as a metabolic checkpoint in replication stress-induced senescence.
Vasilogiannakopoulou T, Begou O, Karali CS
PMID: 41258438
•
2025 Nov 19
•
Cell Mol Life Sci
Molecular profiling of endometrial cancer in Martinique reveals frequent CCNE1 amplification in poor prognosis tumors.
Labeau T, Loger JS, Jean-Laurent M
PMID: 41257933
•
2025 Nov 19
•
Sci Rep
DLL3 Immunohistochemical Expression in Neuroendocrine-Transformed EGFR-Mutant Lung Cancer and Two Cases of Tarlatamab Therapy.
Aredo JV, Singhal S, Berry GJ
PMID: 41256964
•
2025 Dec
•
JTO Clin Res Rep
Get instant, comprehensive insights on TP53 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025