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An MTOR mutation hitchhikes through renal embryogenesis, driving multifocal, multiphenotypic tumours - RNA

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.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001004323 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00008254045 cram 3.8 GB
EGAF00008254046 cram 3.2 GB
EGAF00008254047 cram 3.4 GB
EGAF00008254048 cram 4.0 GB
EGAF00008254049 cram 3.8 GB
EGAF00008254050 cram 3.8 GB
EGAF00008254051 cram 3.2 GB
EGAF00008254052 cram 3.4 GB
EGAF00008254053 cram 4.0 GB
EGAF00008254054 cram 3.8 GB
10 Files (36.5 GB)