Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant-A first report.
Eur J Hum Genet
; 32(3): 361-364, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38282073
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Tumor de Wilms
/
Neoplasias Renais
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Reino Unido