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Discovery: Gene Mutation Signals Aggressive Melanoma


Scientists from Mount Sinai have reported that a mutation of the ARID2 gene may be a key factor in the risk of melanoma turning metastatic.

Researchers from Mount Sinai in New York, New York, have released a report on the association between melanoma and ARID2. Findings from a study published in Cell Reports demonstrated that a mutation in the ARID2 gene may play a role in if the cancer will turn metastatic and will need a different treatment.

“Our study is the first to characterize the tumor-suppressive functions of ARID2 in melanoma,” said the study’s lead author Emily Bernstein, PhD, professor of oncological sciences at The Tisch Cancer Institute at Mount Sinai, in the press release. “We modeled ARID2 mutations by removing the ARID2 protein completely from melanoma cells and studied the consequences in the petri dish and in animal models. Recreating actual mutations that patients harbor is challenging, but now possible by genome editing, and would further provide a more accurate model; such studies are ongoing in the lab.”

It was found that ARID2 is a part of a chromatin remodeling complex and when examined further is frequently mutated in melanoma. In the study, melanoma tumor models were used to measure the association of ARID2 in melanoma cancer progression. According to the release, researchers assessed the effects of ARID2 loss on the epigenetic landscape, a dynamic DNA, and protein platform and found that without ARID2, melanoma cells exhibit increased metastatic behaviors.


Scientists discover gene mutation that signals aggressive melanoma. Mount Sinai Health System. Published April 6, 2022. Accessed April 20, 2022. https://www.mountsinai.org/about/newsroom/2022/scientists-discover-gene-mutation-that-signals-aggressive-melanoma

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