Whitworth, James, Armstrong, Ruth and Maher, Eamonn R (2024). Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report. European Journal of Human Genetics, 32 (3), pp. 361-364.
Abstract
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant. However, here we report a child with bilateral Wilms tumour who had inherited a pathogenic TRIM28 variant from their father. This finding suggests that genetic counselling for paternally inherited pathogenic variants in TRIM28 should include discussion of a potential risk of Wilms tumour.
| Publication DOI: | https://doi.org/10.1038/s41431-024-01545-7 |
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| Divisions: | College of Health & Life Sciences > Aston Medical School |
| Funding Information: | This research was supported by the NIHR Cambridge Biomedical Research Centre (NIHR203312). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care. The University of Cambridge has rece |
| Additional Information: | Copyright © The Author(s), 2024. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/. |
| Publication ISSN: | 1476-5438 |
| Last Modified: | 18 Nov 2024 08:48 |
| Date Deposited: | 12 Feb 2024 12:41 |
| Full Text Link: | |
| Related URLs: |
https://www.nat ... 431-024-01545-7
(Publisher URL) http://www.scop ... tnerID=8YFLogxK (Scopus URL) |
PURE Output Type: | Article |
| Published Date: | 2024-03 |
| Published Online Date: | 2024-01-29 |
| Accepted Date: | 2024-01-16 |
| Authors: |
Whitworth, James
Armstrong, Ruth Maher, Eamonn R |
CORE (COnnecting REpositories)
CORE (COnnecting REpositories)