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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489403 | PMC |
| http://dx.doi.org/10.1155/2022/5503505 | DOI Listing |
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