BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

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...

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Bibliographic Details
Main Authors: Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2022/5503505
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