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

Autor: Whitworth J; University of Cambridge Department of Medical Genetics, Box 238 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. jww39@cam.ac.uk.; Department of Clinical Genetics, Box 134 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. jww39@cam.ac.uk., Armstrong R; Department of Clinical Genetics, Box 134 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK., Maher ER; University of Cambridge Department of Medical Genetics, Box 238 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; Department of Clinical Genetics, Box 134 Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; Aston Medical School, Aston University, Birmingham, B4 7ET, UK.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Mar; Vol. 32 (3), pp. 361-364. Date of Electronic Publication: 2024 Jan 29.
DOI: 10.1038/s41431-024-01545-7
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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