A recent study by scientists at NYU have reported that a genetic variation may lead to a large increase of melanoma in women under the age of 50, higher in fact than many of the clinical risk factors associates with melanoma such as sunburns and family history. This could lead to a genetic test that could identify those women who are at a higher risk of developing melanoma, leading to increased surveillance of these patients, and thus melanoma development could be detected earlier. This would be a huge breakthrough in early detection of skin cancer and reduction of melanoma fatalities, as it currently leads to an estimated 8420 diagnosed patients dying each year in the US.
Melanoma is more common among women under 40 than men, and scientists at Princeton believe this is because of higher levels of oestrogen in this group, which is linked to a genetic variant in a specific gene. When oestrogen binds to this gene, it turns on production of MDM2 which is a potential cancer promoting gene in cells. Women who have higher than average oestrogen levels, and who contain this genetic variant, produce more of the MDM2 protein which the study found could increase their melanoma risk. The genetic variant appears in the gene’s promoter, which is normally regulated by a tumour suppressor gene but, when MDM2 is turned on through increased oestrogen rather than the tumour suppressor gene, it decreases the amount of this suppressor gene which reduces the cell’s protection against turning into a cancer cell.
This study has shown that the substitution of a single letter of DNA at a specific point in the promoter will increase the suppressor gene production, which may lead to reducing the risk of high-risk women. It also evaluated the effects of this genetic variation in 227 melanoma patients. The results showed that over 40% of the women diagnosed with the melanoma under the age of 50 has this genetic variation, and that 38% of the women with the variation developed the melanoma at a relatively younger age, further evidence that this genetic variation may be a huge factor in the development of melanoma.
While more work must be done to validate the study, it could lead to a stronger model of skin cancer risk, leading to decreased risk of fatalities due to melanoma.
This study is published in the April 1st, 2009 issue of Clinical Cancer Research.
NYU Langone Medical Centre/New York University School of Medicine April 1 2009, ‘New Risk Factor For Melanoma In Younger Women’, Science Daily, Accessed April 2 2009, http://www.sciencedaily.com/releseases/2009/03/090324131448.htm
Rachel Driscoll
