Genetic Analysis of Adult intraocular tumors
Research type
Research Study
Full title
Molecular Genetic landscape of Adult intraocular tumours
IRAS ID
144433
Contact name
Anne Bowcock
Contact email
Sponsor organisation
Joint Research Compliance Office
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Ocular Melanomas are most common forms of melanoma after cutaneous melanoma. Although the rates of incidence of Uveal melanoma (UM) are static but there is a significant increase in conjunctival melanomas (CM) over the years. Metastasis related death is seen in 50% of the UM patients and in about 26% of CM cases. Metastasis is a defining feature of malignant tumors and is the most common cause of cancer-related death. However, the genetics of metastasis are poorly understood. UMs can be grouped according to risk of metastatic death into class 1 (low risk) and class 2 (high risk) based on a gene expression signature. A subset of UMs has a highly characteristic pattern of metastasis to the liver that is resistant to conventional chemotherapy and is usually fatal. A major focus of our research has been to identify the specific genetic changes that confer metastatic competency in UM. We were the first group to apply exome capture followed by massively parallel sequencing to identify BAP1 as the metastasis suppressor in UM. In the current study we will capitalize on our recent success with these technologies to identify additional tumor suppressor genes and oncogenes mutated in UM. Although several recent studies have provided knowledge of the genetic alterations leading to UM, the genetics of CMs are poorly understood. Another aspect of our study is aims to identify the genetic basis of CM. we will use high throughput NexGen sequencing technologies (exome and genome sequencing) to identify genetic alterations that plays a role in the development of conjunctival melanoma.
REC name
London - City & East Research Ethics Committee
REC reference
14/LO/1870
Date of REC Opinion
17 Dec 2014
REC opinion
Further Information Favourable Opinion