Cellular and molecular biology of Uveal Melanoma v1.0
Research type
Research Study
Full title
Genetic Predisposition, Genomic Influence and Immunological Factors affecting the Development and Progression of Uveal Melanoma
IRAS ID
252699
Contact name
Antonia Pritchard
Contact email
Sponsor organisation
University of the Highlands and Islands
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
"research summary"
While melanoma is commonly thought to be a cancer of the skin, it can also occur in the eye. This form of melanoma is known as uveal melanoma (UM); it is not caused by over-exposure to sunlight ultra-violet radiation. There are changes in DNA that can increase the likelihood of a person developing UM and that can drive the UM to metastasise. This project will investigate these DNA changes in UM patients and in their tumours treated at the Scottish Ocular Oncology Clinic in Glasgow, and also through self referral, which will involve taking a family history and collecting blood and tumour samples if available.These data and samples will be used to investigate a) DNA changes that influence susceptibility to UM b) DNA changes within the tumour that drive development and progression c) the patient's own immune response to tumour DNA changes.
Findings from this study will help identify those at risk to developing UM and potential tumour treatment targets.
"Summary of Results"
: 38 uveal melanoma DNA samples were collected in this study between February 2022 and September 2025. All individuals were diagnosed with a uveal melanoma at the Scottish Ocular Oncology Service.The DNA samples were then included in a large genome-wide association (GWA) study with research teams from Australia and Europe. A GWA study compares the entire DNA (genome) of multiple people to find genetic variations that are associated with a disease (in this case, uveal melanoma). The results are not available at the moment as the journal article has not been published yet. The publication is at the journal review stage.
REC name
Wales REC 7
REC reference
19/WA/0306
Date of REC Opinion
19 Dec 2019
REC opinion
Further Information Favourable Opinion