Sarcoma susceptibility
Gene: TP53
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
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
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
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma; Breast; Sarcoma
Comment on list classification: Key gene in this phenotype.Created: 10 May 2016, 9:39 a.m.
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
Publications for gene: TP53 were set to 27050224; 28338660
Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089
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