Targeted sequencing of cylindroma patients

Study ID Alternative Stable ID Type
EGAS00001002708 Other

Study Description

Patients with cylindroma show multiple large tumours on the scalp and forehead. These large tumours will allow us to look at clonality within a tumour. We wish to asses the mutational load and diversity within and across tumours as well as compare with perilesional skin.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
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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