BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion. (13th September 2022)

• Record Type: Journal Article
• Authors: Pandithan, Dinusha; Klebe, Sonja; McKavanagh, Grace; Rawlings, Lesley; Yu, Sui; Nicholl, Jillian; Poplawski, Nicola
• Other Names: Ban Yoshiyuki Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2022(2022)
• Publication Date: 2022-09-13
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2022/5503505
• Languages: English
• ISSNs: 2090-6544

Abstract

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.