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...
Saved in:
| Main Authors: | Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/5503505 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Regulation of Med1 protein by overexpression of BAP1 in breast cancer cells
by: Hyunju Kim
Published: (2024-12-01) -
BAP1 complexes with YY1 and RBBP7 and its downstream targets in ccRCC cells
by: Wu Ying, et al.
Published: (2025-07-01) -
Evaluation of BaP in breathing zone of asphalt workers in Tehran
by: H Kakoei, et al.
Published: (2015-03-01) -
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.
by: Karin A W Wadt, et al.
Published: (2024-01-01) -
Bayesian analysis of the rate of spontaneous malignant mesothelioma among BAP1 mutant mice in the absence of asbestos exposure
by: Dahlia M. Nielsen, et al.
Published: (2025-01-01)