BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
oleh: Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski
| Format: | Article |
|---|---|
| Diterbitkan: | Hindawi Limited 2022-01-01 |
Deskripsi
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.