DERMATLAS
Research type
Research Study
Full title
DERMATLAS: the world’s most comprehensive resource for exploring the complexity of somatic and germline genetic alterations found in human skin tumours.
IRAS ID
304621
Contact name
David Adams
Contact email
Sponsor organisation
Genome Research Limited operating as The Wellcome Sanger Institute
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Each year there are between 2-3 million skin cancers and 132,000 melanomas are diagnosed worldwide. Skin cancers are Europe's most common type of tumour with many skin tumour types have an extremely poor prognosis. Many patients can be managed with surgical intervention but the surgery is often disfiguring and is associated with significant morbidity. Classifying skin tumour types can be extremely challenging, particularly determining benign from malignant lesions. Unlike more common cancers, the genomes of most skin malignancies have not been studied in detail and treatment options in advanced disease are limited.
This project will document the genomes of 70 rare skin tumour subtypes to build a map of how these cancers form and mutate. This will result in the world’s largest and most diverse genomic atlas of skin tumours and will be used to help understand and treat skin cancer.
We will analyse around 50 cases per skin tumour type, from a range of body sites and from patients of any age or sex, from across the world, to build a comprehensive genomic atlas of dermatological tumours, including detailed maps of single nucleotide variants (SNVs), copy number alterations, genome-wide methylation and expression profiles. This will include looking for mutational signatures caused by chemical exposures and the presence of viruses, which can help define new screening and public health approaches.
Genome sequencing will be based at the Wellcome Sanger Institute with an international team of pathologists and dermatologists providing anonymous (either pseudonymised or fully anonymised) pre-collected tumour samples from the living.REC name
London - Surrey Borders Research Ethics Committee
REC reference
21/PR/1204
Date of REC Opinion
10 Sep 2021
REC opinion
Favourable Opinion