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Last updated on April 18, 2014 at 14:49 EDT

Gene variants tied to melanoma risk

July 15, 2005

By David Douglas

NEW YORK (Reuters Health) – 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 Reuters Health, “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.