Genetic profiling of mucosal melanoma
Research type
Research Study
Full title
Genetic profiling of mucosal melanoma
IRAS ID
172943
Contact name
Louise van der Weyden
Contact email
Sponsor organisation
Genome Research Ltd. (Wellcome Trust Sanger Institute)
Duration of Study in the UK
3 years, 0 months, 2 days
Research summary
We plan to study a type of skin cancer called Mucosal Melanoma (MM). MMs arise from pigment-producing cells located in the moist layers of epithelial (lining) tissue. These moist layers (mucosal membranes) line the respiratory (airways), gastrointestinal (digestive) and urogenital (reproductive and urinary) tracts. Patients with MM have a 5-year survival rate of only 14%, compared to 90% for skin (cutaneous) melanoma patients, thus a better understanding of this disease is needed. MM is rare and knowledge of genetic changes that contribute to its disease-causing ability is limited to a few studies with low sample numbers. We aim to obtain MM samples from collaborators, and determine the DNA 'code' (sequence) from these tumours to identify any genes that are mutated. We will be able to identify genetic pathways used by the melanoma cells which promote cancer formation and we may identify essential targets that could pave the way for the development of novel drugs for treatment of MM patients.
Samples of pre-collected MM tissue (from different anatomical locations) in formalin-fixed paraffin-embedded (FFPE) blocks,'cores' (obtained by using a biopsy needle to take a punch out of a FFPE block), or tissue sections will be obtained from collaborators. These samples will have been collected by our collaborators in compliance with relevant legislation. Consent will have been obtained from research participants for the use of their donated samples in research and research ethics committee approval will be in place from an appropriate ethics committee.
Sequencing (determining the DNA 'code') and genotyping (determining changes in specific genes) data will be stored indefinitely under managed access in an electronic data archive (database) and shared with other researchers around the world in order to make best use of data obtained from valuable samples. Results of the study will be published in open access scientific journals.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
15/SC/0093
Date of REC Opinion
9 Feb 2015
REC opinion
Favourable Opinion