BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Dinusha Pandithan; Sonja Klebe; Grace McKavanagh; Lesley Rawlings; Sui Yu; Jillian Nicholl; Nicola Poplawski

doi:10.1155/2022/5503505

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Case Rep Genet. 2022 Sep 13:2022:5503505. doi: 10.1155/2022/5503505. eCollection 2022.

Authors

Dinusha Pandithan¹, Sonja Klebe², Grace McKavanagh³, Lesley Rawlings⁴, Sui Yu⁴, Jillian Nicholl⁴, Nicola Poplawski^{1

5}

Affiliations

¹ Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
² Anatomical Pathology, SA Pathology and Flinders University, Flinders Medical Centre Site, Bedford Park, South Australia, Australia.
³ Molecular Pathology, Mater Hospital Brisbane, South Brisbane, Australia.
⁴ Genetics and Molecular Pathology, SA Pathology, Adelaide Site, South Australia, Australia.
⁵ Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.

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.

Publication types

Case Reports