Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

James Whitworth; Ruth Armstrong; Eamonn R Maher

doi:10.1038/s41431-024-01545-7

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

James Whitworth
, Ruth Armstrong
, Eamonn R Maher

Aston Medical School

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

12 Downloads (Pure)

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.

Original language	English
Pages (from-to)	361-364
Number of pages	4
Journal	European Journal of Human Genetics
Volume	32
Issue number	3
Early online date	29 Jan 2024
DOIs	https://doi.org/10.1038/s41431-024-01545-7
Publication status	Published - Mar 2024

Bibliographical note

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/.

Funding

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 received salary support (JW, ERM) from the NHS in the East of England through the Clinical Academic Reserve.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.1038/s41431-024-01545-7Licence: CC BY 4.0

Whitworth Armstrong and Maher_first report_Wilms tumour resulting from paternal TRIM28 pathogenic variant
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/.
Final published version, 550 KBLicence: CC BY 4.0

Cite this

@article{979dba60475041869b2dbd1b9383703a,

title = "Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report",

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. ",

author = "James Whitworth and Ruth Armstrong and Maher, \{Eamonn R\}",

note = "Copyright {\textcopyright} 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{\textquoteright}s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article{\textquoteright}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/.",

year = "2024",

month = mar,

doi = "10.1038/s41431-024-01545-7",

language = "English",

volume = "32",

pages = "361--364",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "3",

}

TY - JOUR

T1 - Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

AU - Whitworth, James

AU - Armstrong, Ruth

AU - Maher, Eamonn R

N1 - 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/.

PY - 2024/3

Y1 - 2024/3

N2 - 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.

AB - 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.

UR - https://www.nature.com/articles/s41431-024-01545-7

UR - https://www.scopus.com/pages/publications/85183413046

U2 - 10.1038/s41431-024-01545-7

DO - 10.1038/s41431-024-01545-7

M3 - Article

C2 - 38282073

SN - 1018-4813

VL - 32

SP - 361

EP - 364

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

Abstract

Bibliographical note

Funding

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this