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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Detalles Bibliográficos
Autores principales: Pandithan, Dinusha, Klebe, Sonja, McKavanagh, Grace, Rawlings, Lesley, Yu, Sui, Nicholl, Jillian, Poplawski, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489403/
https://www.ncbi.nlm.nih.gov/pubmed/36148247
http://dx.doi.org/10.1155/2022/5503505
Descripción
Sumario: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.

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