ArticleEuropean journal of human genetics : EJHG2024
Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant-A first report.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 2 citations in OpenAlex.
- The absence of Trim28 in nephron progenitors results in impaired kidney development and function.Development (Cambridge, England) · 2026Article
- scGeno: a Hidden Markov Model approach to denoise chromosome-scale genotypes from single-cell data.Bioinformatics advances · 2026Article
- Solving medical mysteries with genomics.European journal of human genetics : EJHG · 2024Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
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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.
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