BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
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ABSTRACT:
SUBMITTER: Pandithan D
PROVIDER: S-EPMC9489403 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Pandithan Dinusha D Klebe Sonja S McKavanagh Grace G Rawlings Lesley L Yu Sui S Nicholl Jillian J Poplawski Nicola N
Case reports in genetics 20220913
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. ...[more]
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