Melanoma is a skin tumor, usually malignant, that occurs when pigment producing cells grow without control. While it is an uncommon form of skin cancer, it is the cause of the most skin cancer related deaths and is the most dangerous. Melanoma is usually trigger by overexposure to UV radiation from sun or tanning beds. The cancerous growths tend to develop when unrepaired DNA damage to skin cells triggers mutations that lead to uncontrolled cell growth. The most common symptom is asymmetrical, growing "moles". Melanoma is responsibly for killing an estimated 9700 people in the US each year. With proper treatment and early detection, melanoma is almost always curable.
The SNPs related to this disease are rs1805007 and rs16891982. SNP rs1805007 is in the MC1R gene which is associated with red hair color. In many studies, this SNP has been associated with increased risk for melanoma, especially in those of European descent. SNP rs16891982 is involved in skin pigmentation. Both of these SNPs could be involved in the development of melanoma.
23 and Me Edit
The results from the 23 and Me test indicated that Professor Burke has an elevated risk of developing melanoma. The average risk of development is 2.9%. Professor Burke has a risk of 4.0%, which is 1.38 times greater. This could be due to a few different reasons, from family history to previous overexposure to UV radiaiton.