| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sarcoma susceptibility v1.79 | TERT | Arina Puzriakova Publications for gene: TERT were set to PMID: 31529158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.78 | TERT | Arina Puzriakova Classified gene: TERT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.78 | TERT |
Arina Puzriakova Added comment: Comment on list classification: Although there is evidence to support that TERT promoter variants affect prognosis, they are not the driving alteration in SFT. Furthermore, this cancer panel is intended for germline susceptibility findings rather than somatic variants as described in the case of TERT. Therefore, assigning a Red rating to the TERT gene on this panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.78 | TERT | Arina Puzriakova Gene: tert has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.77 | TERT |
Arina Puzriakova Tag promoter tag was added to gene: TERT. Tag somatic tag was added to gene: TERT. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.77 | TERT | Arina Puzriakova reviewed gene: TERT: Rating: ; Mode of pathogenicity: None; Publications: 24726063, 27562490, 29985536, 31529158, 31321477, 38392213, 38357190; Phenotypes: Solitary Fibrous Tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.75 | TERT |
Adrienne Flanagan gene: TERT was added gene: TERT was added to Sarcoma susceptibility. Sources: Literature,Other Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TERT were set to PMID: 31529158 Phenotypes for gene: TERT were set to Solitary Fibrous Tumour Review for gene: TERT was set to GREEN Added comment: Solitary fibrous tumour (SFT) is a rare mesenchymal tumour with a wide anatomical distribution, including superficial and deep soft tissue, visceral organs and bone and is most common in adults. The tumours classified in the intermediate risk group by WHO grading system are difficult to prognosticate. Recent studies show that C228T TERT promoter (pTERT) mutation is associated with reduced survival in SFT. pTERT mutation is more common in intermediate and high-risk groups, and is associated with poorer outcome. Detection of the pTERT mutation has the potential to improve current prognostication and guide management of patients with intermediate-risk solitary fibrous tumours. These findings were validated by a study presented at the 2023 joint winter meeting of Pathological Society with the RSM, abstract OF6: https://www.pathsoc.org/_userfiles/pages/files/abstracts_booklet_winter_meeting_2023.pdf Sources: Literature, Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||