Endometrial Cancer
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 18 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Endometrial cancers reported in condition.
Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 11:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endometrial cancer, MONDO:0011962; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Endometrial cancer, MONDO:0011962
- Li-Fraumeni syndrome, MONDO:0018875
- Li-Fraumeni syndrome, MIM#151623
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Panels with this gene
-
- Additional findings_Adult
- Prostate Cancer
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Wilms Tumour
- Sarcoma non-soft tissue
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp53 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tp53 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TP53 was added gene: TP53 was added to Endometrial Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Endometrial cancer, MONDO:0011962; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623 Review for gene: TP53 was set to GREEN