Gene variants tied to melanoma risk

In a Mediterranean population typically at low risk for developing melanoma, carriers of mutations in the pigmentation gene MC1R are at increased risk of developing the skin cancer and having it progress, a study hints.

This seems to be particularly true for mutation carriers who do not have other strong risk factors for melanoma such as freckles or moles.

As Dr. Maria Teresa Landi told, “people with red hair, light skin, many moles or freckles are known to be at increased risk of developing melanoma.”

“We showed that individuals who have variant forms of the MC1R gene, which regulates the response to ultraviolet light, may be at high risk of developing melanoma or having a more aggressive disease regardless of their pigmentation or number of moles,” she said.

Landi, of the National Cancer Institute in Bethesda, Maryland, and colleagues studied data on 267 melanoma patients and 382 controls obtained in an Italian study.

Carrying a MC1R variant, especially multiple variants, was associated with a two to fourfold increase in sporadic (seemingly random) and in familial (inherited) melanoma, they report in the Journal of the National Cancer Institute dated July 6.

Moreover, the association was stronger in people with darker skin and fewer moles. This suggests, say the investigators, that MC1R has an additional role beyond regulating pigmentation.

“Thus,” added Landi, “people should protect themselves against intense sun exposure, even if they tan well.”

SOURCE: Journal of the National Cancer Institute, July 6, 2005.

Provided by ArmMed Media
Revision date: June 21, 2011
Last revised: by Sebastian Scheller, MD, ScD