BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Case Rep Genet
; 2022: 5503505, 2022.
Article
em En
| MEDLINE
| ID: mdl-36148247
ABSTRACT
BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first reported family with a whole BAP1 gene deletion. This report also adds to the emerging evidence that the rhabdoid subtype of meningioma is a part of the clinical spectrum of this tumour predisposition syndrome.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Idioma:
En
Revista:
Case Rep Genet
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Austrália