Brigham and Women's Hospital researchers find that missing pieces of DNA structure are a red flag for deadly skin cancer

Melanoma is the most dangerous type of skin cancer and is the leading cause of death from skin disease. Rates are steadily increasing, and although risk increases with age, melanoma is now frequently seen in young people.

But what if we could pinpoint when seemingly innocuous skin pigment cells mutate into melanoma? Researchers at Brigham and Women's Hospital have achieved this. Teams led by Yujiang Geno Shi, PhD, from BWH's Department of Medicine, and George F. Murphy, MD, from BWH's Department of Pathology have discovered a new biomarker for the lethal disease. The findings offer novel opportunities for skin cancer diagnostics, treatment and prevention.

The study will be published on September 14, 2012 in Cell.

"Dr. Shi and colleagues have discovered an exciting new connection between the loss of a specific chemical mark in the genome and the development of melanoma," said Anthony Carter, PhD, of the National Institutes of Health's National Institute of General Medical Sciences, which mainly funded the research. "This work is a prime example of how basic research on mechanisms of epigenetic regulation can yield clinically significant insights that hold great promise for diagnosing and treating cancer."

The researchers found that certain biochemical elements in the DNA of normal pigment-producing skin cells and benign mole cells are absent in melanoma cells. Loss of these methyl groups—known as 5-hmC—in skin cells serves as a key indicator for malignant melanoma. Loss corresponded to more advanced stages of melanoma as well as clinical outcome.

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Among the research institutions NCI funds across the United States, it currently designates 67 as Cancer Centers. Largely based in research universities, these facilities are home to many of the NCI-supported scientists who conduct a wide range of intense, laboratory research into cancer’s origins and development. The Cancer Centers Program also focuses on trans-disciplinary research, including population science and clinical research. The centers’ research results are often at the forefront of studies in the cancer field.