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Approved Research

Analysis of phenotypic and environmental factors associated with identified genetic variants in skin cancer.

Principal Investigator: Dr Kavita Sarin
Approved Research ID: 92702
Approval date: March 29th 2023

Lay summary

Skin cancer is the most common human malignancy with rising incidence rates. We are focused on understanding the genetics behind skin cancer (both melanoma and non-melanoma) to develop new targeted therapies. We have made significant progress in identifying specific genetic variants that play a role in squamous cell carcinoma, basal cell carcinoma, melanoma, and other cancer-associated skin diseases. The aims of this project are to use the UK Biobank to 1) validate the impact of genetic variants associated with skin cancer, 2) explore how cancer-related variants effect associated phenotypes such as frequency, coloration, and size of cutaneous lesions, 3) understand how environmental exposures may modulate the effect of genetic variants on skin cancer, and 4) identify if identified genetic variants increase the risk for other malignancies. We will study variants from different skin diseases separately using statistical tests to determine their association with phenotypic, environmental, and biomarkers measurements. Reviewing evidence from the UKBiobank will increase our confidence regarding which variants may serve as potential therapeutic targets to improve skin cancer outcomes.

Results from our analyses will guide subsequent functional experiments aimed at understanding which downstream signaling pathways are affected, and how these variants synergize with known oncogenic pathways (i.e., p53, ATK, MAPK pathways). Because this project involves multiple studies focused on different skin diseases, we request data access for the maximum project duration of 36 months.

The public health impact of this project is to extend our understanding of skin cancer genetics and improve our annotation of specific genetic mutations enriched in skin cancer. Furthermore, the proposed project will enable us to identify druggable targets, thereby facilitating the development of new therapeutics to improve skin cancer outcomes.