RESEARCHERS from the National Cancer Institute’s Centre for Cancer Research have identified a gene called PTEN which may play an important role in the formation of melanoma.
The study analysed 59 melanoma samples taken from eight patients with xeroderma pigmentosum (XP) who were seen at the NIH Clinical Centre between 1971 and 2008.
XP is a rare genetic disorder which compromises the ability of cells to repair DNA damage to the skin, putting these patients at a nearly 1,000-fold increased risk of melanoma.
The researchers found 56% of the XP melanomas analysed harboured mutations in the PTEN gene. Of these mutations, 91% included DNA base substitutions of the type that usually result from UV damage, with between one and four changes per tumour.
These mutations were also detected among melanomas in situ, those at the earliest stage of disease. Melanomas from the same person sometimes had different PTEN mutations, indicating they arose independently.
The researchers claim the findings provide a clear mechanistic framework for the role of UV in the induction of melanomas.
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