Carriers of a particular genetic variant at significantly increased risk of developing malignant melanoma

Melanomas are known to be caused by exposure to the ultraviolet light in sunlight, but the precise mechanisms involved are complex. In a presentation at the 33rd Congress of the European Society for Medical Oncology (ESMO) in Stockholm, Portuguese researchers showed that variations in a gene known as ‘cyclin D1’ also increase susceptibility to the disease.

This gene plays a key role in regulating the cell cycle, the intricate molecular process by which cells divide and replicate. Alterations in its activity are known to be associated with the development of several human cancers, including melanoma.

PhD student Raquel Catarino from the Portuguese Institute of Oncology in Porto and colleagues studied a particular variant of the gene in the blood of 1,053 individuals, including 161 cases with melanoma and 892 healthy individuals. Their analysis showed that individuals carrying two copies of the variant were 80% more likely to develop melanoma.

“Our study demonstrates that cyclin D1 polymorphism is associated with a higher risk of melanoma development, indicating that this genetic variation may confer growth advantage to cancer cells. Our results indicate that the proportion of melanoma cases attributable to this genetic alteration is 14%. Understanding the molecular variations involved in cellular processes could be critical for early diagnosis.”

Other research groups have identified other genes that are implicated in susceptibility to melanoma. “We think that once the genetic factors involved in melanoma oncogenesis are identified and their importance established and validated, the individual’s genetic profile could help clinical decisions, including disease screening and selection of higher-risk individuals,” Dr. Catarino said.

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