Dec 16, 2021 - Research

New Genetic Findings on Melanoma


A team of researchers in Australia found more than 70 genetic variants associated with cutaneous melanoma, one of the most lethal forms of skin cancer.

Types of Skin Cancer

Only about two percent of skin cancers are melanoma, but this aggressive form of cancer is responsible for the vast majority of skin cancer deaths. The rate of melanoma has also increased over time. While ultraviolet radiation from sun exposure and skin sensitivity is a key factor in the risk for melanoma, genetic factors also play a role. This study was an attempt to learn more about the genetic influence on the risk for melanoma.

New Method to Research Melanoma

For their study, published in the Journal of Investigative Dermatology, the scientists from Australia’s QIMR Berghofer Medical Research Institute, used a two-step process.

First, they looked at genetic associations for cutaneous melanoma. They did this by combining findings from previous genome wide association studies that used data from the UK Biobank, and Australia’s QSkin Sun and Health Study. The next step involved looking at traits associated with the condition. Among the traits they looked at are associated with melanoma were the number of moles a person has, and the propensity to get sunburn.

By combining these two processes, they identified known genetic variant. But the researchers also identified variants that were not previously known to be associated with melanoma. The findings were then replicated using data from 23andMe and the Melanoma Institute Australia.

Connections with Autoimmune Diseases

Among the more than 70 genetic variants identified were 19 variants not previously known to be associated with melanoma. And within those were variants also associated with autoimmune diseases for conditions such as psoriasis and rheumatoid arthritis. Some of the strongest associations were variants in the LPP  and the SH2B3 genes. Both of these genes play a role in regulating the body’s immune response.

According to the researchers, these findings may offer keys to potential future treatments. There are already promising treatments that target genes involved in regulating the immune response. These include tyrosine kinase inhibitors and immune checkpoint inhibitors, which is targets the CTLA-4 protein on T cells.

Read the full paper here.

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