Study

Somatic mutation in skin epidermis SMS

Study ID Alternative Stable ID Type
EGAS00001002165 Other

Study Description

We aim to assess the range and depth of mutations in genes linked with cancer in skin epidermis surrounding lesions which are undergoing surgical removal. Patient history will be collected to provide a detailed outline of tumour type (including histology), skin type, and sunlight exposure. We will perform ultra-deep targeted sequencing using genes implicated in cancer to try and understand the background of mutations surrounding these lesions

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006194
The risk of getting non-melanoma skin cancer varies over 40-fold across the body. Here we map mutations in normal skin in high and low risk sites in normal donors and those with an increased risk of skin cancer. The density of mutations varied widely, with evidence of positive and negative genetic selection.  Regional differences in mutational signatures in high and low cancer risk sites and preferential selection of mutants of TP53 in high risk skin and FAT1 in lower risk skin were observed. ... (Show More)
HiSeq X Ten,Illumina HiSeq 2500,Illumina NovaSeq 6000 805

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