Newly discovered genetic marker to help predict melanoma survival


Researchers from New York University’s Langone Medical Centre have discovered an inherited genetic marker which they say may provide clinicians with another tool to predict melanoma patient survival and to identify which patients need closer monitoring after surgery to remove tumours.

In a paper published online in Clinical Cancer Research (Jan. 5, 2016), the investigators detail how they looked for inherited genetic markers within the immune response pathways, as melanoma is known to avoid detection by the immune system. “We hypothesized that if someone inherits a certain genetic variant that suppresses immunity, there is a much higher chance that once melanoma strikes, it will progress faster,” senior author Tomas Kirchhoff, PhD, assistant professor in the Department of Population Health at NYU Langone and a member of the Perlmutter Cancer Center, said in a university press release.

Kirchhoff and his team surveyed nearly 400 gene variant involved in human immune regulation, then narrowed their selection with data from the UK-based Multiple Tissue Human Expression Resource (MuTHER) project, which contains information on a large population of healthy twins.

Those variants which most closely correlated with activation of nearby immune genes in the healthy twins were then tested in samples from 1,221 patients from NYU Langone’s Interdisciplinary Melanoma Cooperative Group.

Ultimately, two of the variants had a significant association with melanoma survival, and the predictive ability was highest when both variants were present. One genotype that included both markers, found in approximately 60% of the studied population, was associated with less favourable and shorter survival in tested melanoma patients. Another genotype, found in 40% of the population, had an average of five years more survival.

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