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Genetics of Pigment & Skin CancerResearch Relates Skin Color, Genes and Melanoma & Carcinoma Risk
Three new studies just published in the May 2008 issue of the journal Nature Genetics may lay the groundwork for DNA screening to help us assess our risk of skin cancer.
Experience shows that people with fair complexions (low levels of melanin) are more prone to sunburn. New research now reveals that certain variations in the genes that control the color of our skin, hair and eyes are associated with an increased risk of melanoma and carcinoma, two potentially deadly forms of skin cancer. Here is a summary of what these three new studies on the genetic variants and skin cancer revealed. Genes Associated with Fair Color and Skin CancerDaniel Gudbjartsson, Patrick Sulem, in cooperation with other scientific colleagues, published the article "ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma." The results of which indicate that fair coloration increases the risk of developing cutaneous melanoma (CM) and basal cell carcinoma (BCC). Previously published genome-wide association studies have identified some of the allele variations associated with the hair, eye and skin pigmentation of Europeans. This new study assessed the effect of these variants on risk of CM and BCC in European populations. The sample studied included 2,121 subjects with CM, 2,163 with BCC and more than 40,000 controls. The genetic variants associated with three sections of genes were found to be linked with increased risk of skin cancer.
Genome-wide Association StudiesMany scientists and research groups are now carrying out genome-wide association studies, which involve rapidly scanning markers (DNA sequences used to identify a particular location on a chromosome) across the genomes of many people to find genetic variations associated with a particular disease. Since 2005, studies employing this gene-scanning technique have discovered approximately 100 DNA variants to 40 common diseases and traits, including prostate cancer, heart disease, multiple sclerosis, gallstones and restless leg syndrome, to name just a few. We can now add the genetic variants associated with skin cancer to the list. Genome-wide Association Study of Pigmentation GenesGudbjartsson and Sulem also announced another research project, this one a genome-wide association study titled, "Two newly identified genetic determinants of pigmentation in Europeans." Genetic variants associated with human pigmentation characteristics were examined among a sample of more than 5,000 Icelanders. Two coding variants in TPCN2 gene were associated with hair color, and a variant at the ASIP locus showed a strong relationship with skin sensitivity to sun, freckling and red hair. Genetic Variations in Chromosome 20 Associated with MelanomaKevin M Brown, Stuart MacGregor and about 40 other researchers unveiled another genome-wide association study, titled "Common sequence variants on 20q11.22 confer melanoma susceptibility." This study identified a new melanoma risk locus on chromosome 20. Knowing Your Skin Cancer RiskBeing aware of genetic variants that increase the risk of certain diseases does not mean that we know how to cure or prevent these illnesses; at least not yet. But once genetic links are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease. In the case of genetic variations associated with skin cancer, knowledge is power. Knowing that you are at increased risk can help you to take the necessary precautions to protect yourself from the sun’s skin damaging rays. SourcesGudbjartsson, D., Sulem P. et al. "ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nature Genetics." (18 May 2008), 161, Letters Sulem P., Gudbjartsson, D. et al. "Two newly identified genetic determinants of pigmentation in Europeans." Nature Genetics (18 May 2008), 160, Brief Communications Brown, K., McGregor, S. et al. "Common sequence variants on 20q11.22 confer melanoma susceptibility." Nature Genetics (8 May 2008), 163, Brief Communications
The copyright of the article Genetics of Pigment & Skin Cancer in Human Genetics is owned by Tami Port. Permission to republish Genetics of Pigment & Skin Cancer in print or online must be granted by the author in writing.
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