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

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
EGAS00001003519 Transcriptome Analysis

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
EGAF00008254021 cram 6.7 GB
EGAF00008254022 cram 5.7 GB
EGAF00008254023 cram 7.0 GB
EGAF00008254024 cram 6.0 GB
EGAF00008254025 cram 6.6 GB
EGAF00008254026 cram 8.5 GB
EGAF00008254027 cram 7.3 GB
EGAF00008254028 cram 8.6 GB
EGAF00008254029 cram 5.8 GB
EGAF00008254030 cram 7.4 GB
EGAF00008254031 cram 4.5 GB
EGAF00008254032 cram 8.0 GB
EGAF00008254033 cram 4.5 GB
EGAF00008254034 cram 8.2 GB
EGAF00008254035 cram 7.1 GB
EGAF00008254036 cram 10.5 GB
EGAF00008254037 cram 6.5 GB
EGAF00008254038 cram 6.5 GB
EGAF00008254039 cram 4.8 GB
EGAF00008254040 cram 4.4 GB
EGAF00008254041 cram 3.8 GB
EGAF00008254042 cram 7.4 GB
EGAF00008254043 cram 6.9 GB
EGAF00008254044 cram 4.9 GB
24 Files (157.6 GB)