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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/5503505 |
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| _version_ | 1849306318450458624 |
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| author | Dinusha Pandithan Sonja Klebe Grace McKavanagh Lesley Rawlings Sui Yu Jillian Nicholl Nicola Poplawski |
| author_facet | Dinusha Pandithan Sonja Klebe Grace McKavanagh Lesley Rawlings Sui Yu Jillian Nicholl Nicola Poplawski |
| author_sort | Dinusha Pandithan |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-2e569a6211be4e199c621cb18a236e89 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-2e569a6211be4e199c621cb18a236e892025-08-20T03:55:07ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/5503505BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionDinusha Pandithan0Sonja Klebe1Grace McKavanagh2Lesley Rawlings3Sui Yu4Jillian Nicholl5Nicola Poplawski6Adult Genetics UnitAnatomical PathologyMolecular PathologyGenetics and Molecular PathologyGenetics and Molecular PathologyGenetics and Molecular PathologyAdult Genetics UnitBRCA-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.http://dx.doi.org/10.1155/2022/5503505 |
| spellingShingle | Dinusha Pandithan Sonja Klebe Grace McKavanagh Lesley Rawlings Sui Yu Jillian Nicholl Nicola Poplawski BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2022/5503505 |
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