Mutation originated in 400AD

SCIENTISTS have identified a skin cancer gene which is believed to have originated in Scotland around 1600 years ago.

Glasgow University researchers are studying people with an inherited form of melanoma - the most deadly form of skin cancer - as part of an international project.

They noticed that an unusually high number of families in the Scottish group shared a specific type of gene mutation that increases the risk of developing melanoma.

Investigations with other researchers in the international consortium revealed this mutation was also present in 12 families from Australia, Canada and America, all with Scottish ancestry.

Using further analysis of changes in the gene structure, they con-cluded that the mutation occurred in a common Scottish ancestor an estimated 88 generations ago.

Experts hope the new research, which has been published online in the journal Genes, Chromosomes and Cancer, will contribute to understanding the disease and help in the development of potential treatments.

Lead author Dr Julie Lang, research scientist at the University of Glasgow, said that a total of eight out of 65 of the families in the Scottish group had been found to carry the mutation, which would have occurred spontaneously centuries ago.

"Through the consortium we have realised that there are other families around the world that carry this gene mutation, so what we really wanted to do was find out where this mutation originally came from," she said.

"Because we had such a high number of families within such a small population in Scotland, we thought it might have originated in Scotland itself. We went on to work out how many generations ago this arose, which is a very rough estimate, but we think it is around 88 generations - about 400AD."

Around one in 10 patients diagnosed with melanoma will have a strong family history of the disease and between 20-40% of those patients carry a high-risk faulty gene known as CDKN2A. The Scottish mutation in this gene is known as M53I, and other types of fault in CDKN2A have also arisen elsewhere in the world.

Scientists are currently working on a number of potential treatments for skin cancer, including gene therapy, which would aim to replace damaged genes in cancer cells with normal ones.

Lang added that families with the mutation should simply check moles regularly and go to a doctor when necessary.

The study was funded by the Shaw Melanoma Charitable Trust, which was set up by Alison Craig after her daughter Nicola died of skin cancer aged 23 in 1995.

Incidence of skin cancer has risen dramatically in Scotland, climbing by 45% in men and 21% in women between 1992 and 2002.