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

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
EGAS00001004322 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
EGAF00005285342 cram 26.0 GB
EGAF00005285343 cram 25.0 GB
EGAF00005285344 cram 23.3 GB
EGAF00005285345 cram 22.9 GB
EGAF00005285346 cram 25.7 GB
EGAF00005285347 cram 27.1 GB
EGAF00005285348 cram 25.9 GB
EGAF00005285349 cram 24.4 GB
EGAF00005285350 cram 22.9 GB
EGAF00005285351 cram 22.0 GB
EGAF00005285352 cram 25.1 GB
EGAF00005285353 cram 26.8 GB
EGAF00008204696 cram 309.7 GB
EGAF00008204697 cram 314.7 GB
14 Files (921.5 GB)