BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion-Reference-Cited by-同舟云学术

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Published:2022-09-13 Issue: Volume:2022 Page:1-4
ISSN:2090-6552
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Pandithan Dinusha¹^ORCID,Klebe Sonja²,McKavanagh Grace³,Rawlings Lesley⁴,Yu Sui⁴,Nicholl Jillian⁴,Poplawski Nicola¹⁵^ORCID

Affiliation:

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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2022/5503505.pdf

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