Rare_renal_tumours_WGS_

Rare renal tumours are by hard to classify and there is very little available information regarding prognosis and sensitivity to treatment. Here we endevour to understand their genomic properties in order to better understand their biology.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001011645	Embryogenesis is a vulnerable time. Mutations in developmental cells can result in the seeding of cells predisposed to disease within mature organs, creating a field effect. We characterise an embryonic cancer mutation that drives multifocal, multiphenotypic renal tumours in a 14-year-old girl. Their shared MTOR mutation, absent from normal tissues, increases protein flexibility which enables a FAT domain hinge to dramatically increase mTORC1 activity. Developmental mutations, not usually detected in traditional genetic screening, have vital clinical importance in guiding prognosis, targeted treatment, and family screening decisions for paediatric tumours.	Illumina NovaSeq 6000	1

Publications	Citations
Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis. Pacyna CN, Anandapadamanaban M, Loudon KW, Hay IM, Perisic O, Li R, Byrne M, Allen L, Roberts K, Hooks Y, Warren AY, Stewart GD, Clatworthy MR, Teichmann SA, Behjati S, Campbell PJ, Williams RL, Mitchell TJ. Oncogene 43: 2024 3268-3276	0