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
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author Pandithan, Dinusha
Klebe, Sonja
McKavanagh, Grace
Rawlings, Lesley
Yu, Sui
Nicholl, Jillian
Poplawski, Nicola
author_facet Pandithan, Dinusha
Klebe, Sonja
McKavanagh, Grace
Rawlings, Lesley
Yu, Sui
Nicholl, Jillian
Poplawski, Nicola
author_sort Pandithan, Dinusha
collection PubMed
description 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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spelling pubmed-94894032022-09-21 BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion Pandithan, Dinusha Klebe, Sonja McKavanagh, Grace Rawlings, Lesley Yu, Sui Nicholl, Jillian Poplawski, Nicola Case Rep Genet Case Report 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. Hindawi 2022-09-13 /pmc/articles/PMC9489403/ /pubmed/36148247 http://dx.doi.org/10.1155/2022/5503505 Text en Copyright © 2022 Dinusha Pandithan et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pandithan, Dinusha
Klebe, Sonja
McKavanagh, Grace
Rawlings, Lesley
Yu, Sui
Nicholl, Jillian
Poplawski, Nicola
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title_full BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title_fullStr BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title_full_unstemmed BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title_short BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
title_sort bap1 tumour predisposition syndrome due to whole bap1 gene deletion
topic Case Report
url 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
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