Sarcoma susceptibility
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
6 reviews
Adrienne Flanagan (Royal National Orthopaedic Hospital)
Solitary fibrous tumours with TP53 mutations are commonly classified as high risk, and the patients in the study (PMID: 31529158) developed metastases and/or died of disease. The inclusion of TP53 in the work-up of these patients may provide new prognostic indicators for future risk stratification systems, especially in the intermediate-risk group.Created: 15 Jan 2024, 5:42 p.m. | Last Modified: 15 Jan 2024, 5:42 p.m.
Panel Version: 1.75
Phenotypes
Solitary Fibrous Tumour
Publications
- PMID: 31529158
Rebecca Foulger (Genomics England curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Phenotypes
Li-Fraumeni
Publications
Helen Brittain (Genomics England Curator)
Causation is clear. Rhabdomyosarcoma commonly associated. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li-Fraumeni syndrome, 151623
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:16 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma; Breast; Sarcoma
Ellen Thomas (Genomics England Curator)
Comment on list classification: Key gene in this phenotype.Created: 10 May 2016, 9:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Li-Fraumeni syndrome, OMIM:151623
- Solitary Fibrous Tumour
- Sarcoma, MONDO:0005089
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089 to Li-Fraumeni syndrome, OMIM:151623; Solitary Fibrous Tumour; Sarcoma, MONDO:0005089
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TP53 were set to 27050224; 28338660
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TP53 was added gene: TP53 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP53 were set to 27050224; 28338660 Phenotypes for gene: TP53 were set to Sarcoma; Li-Fraumeni syndrome, 151623