iSITE: Investigation of Somatic Alterations in Tumours of the Eye

Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations). Some of these somatic mutations occur in cancer genes and increase the risk of developing cancer. This study will apply such sequencing technologies to cancers of the eye (ocular melanoma) in order to identify mutations associated with these cancers. Sequencing patients at different stages of their disease will allows us to build a timeline of the order of mutations that occur at each stage. This information can be used to understand how these cancers develop, spread (metastasise) and respond to treatment. Furthermore, the study will look at which of these somatic mutations are present in the blood, by collecting blood samples and sequencing fragments of DNA which have been released by tumours into the bloodstream (circulating tumour DNA, ctDNA). This will determine whether ctDNA can be used as a way of monitoring mutations present in the tumour. This study will provide much needed insight into a rare and understudied cancer type, with the long-term aim of improving the survival of patients by identifying key mutations to develop novel therapies against.

Sex

All

Minimum age

18 Years

Maximum age

99 Years

Inclusion Criteria:

* Patients ≥ 18 years of age or over
* Histological diagnosis of primary or recurrent/metastatic ocular melanoma\*.
* Healthy eye, blood and liver samples stored in biobanks with consent for use in research.

  * \*With the exception of primary uveal melanoma where a clinical diagnosis is sufficient. A diagnostic accuracy of \>99% is achieved using the combination of ophthalmoscopy (examination of the back of the eye), fundus photography (photograph of the back of the eye) and an eye ultrasound.

Exclusion Criteria:

* Patients \< 18 years of age