Academic research community (GECIP)

Congenital melanocytic naevi (CMN) is a rare disease in which moles are present at birth on the skin and sometimes in the brain. It predisposes affected children to melanoma. We are investigating the genetics of CMN to try to improve our understanding of the condition and to help direct our search for treatments.

Understanding the consequences of carrying genetic alterations associated with melanoma risk to the genomic features of the resulting melanomas may provide us with a deeper understanding of how these risk factors affect the initiation and progression of melanoma. This in turn may inform public awareness campaigns, genetic counselling and personalisation of treatment options in melanoma.

Gaining insights into the relative contribution specific variants in melanoma drivers make to disease course, and how the genomic features of the resulting melanomas contribute to this, will allow is to make more accurate assessments of disease course, prognosis and treatment for specific subgroups of cutaneous melanoma patients.This in turn can result in a more personalised approach to stratification for risk, prognosis and treatment.

Immunotherapy has emerged as a breakthrough form of new cancer treatment, leading to extended survival in a considerable number of patients. However in some patients immunotherapy is not effective, and other treatment options may be more beneficial. Predictive tests are urgently needed to identify which patients will and won’t benefit from immunotherapy treatment, and in this project we will investigate whole genome sequencing data as a potential tool to make these predictions.

Whilst our understanding of malignant melanoma has improved over recent years, a large number of diagnosed patients die from the disease. Analysis of how the genetic variants within malignant melanoma influence the wider biological environment within that patient, particularly how their immune system responds to the cancerous growth, will help optimise treatment.

Whilst our understanding of malignant melanoma has improved over recent years, a large number of diagnosed patients die from the disease. Analysis of the broad range of genetic variants that occur within patient tumours may help identify new treatment strategies, or optimise existing ones.

In the last decade, new advances in immunotherapies have greatly improved the outcomes of patients with advanced melanoma. For example in one study, the 5year survival rate was 52%, compared to chemotherapy where survival was previously limited to months. However, many patients still do not benefit. The genomic features of melanoma has been described, but has not been well matched with patient outcomes, and there are limited tools or markers available to clinicians that may help predict patient outcomes. Furthermore, we have a limited understanding of why some patients respond to treatment, while others do not respond. Therefore, in this project, we aim to correlate participants’ anonymized clinical outcomes data with the genomic data from whole genome sequencing.