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National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

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Genes and Disease [Internet].

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Malignant melanoma

Image Melanoma.jpg

In 1997, it was expected that about 40,300 Americans would be diagnosed with malignant melanoma, the most aggressive kind of skin cancer. Melanomas are more common in people with lightly pigmented skin, and people who have had melanoma once have a high risk of developing new melanomas.

In some cases, the risk of developing melanoma runs in families, where a mutation in the CDKN2 gene on chromosome 9 can underlie susceptibility to melanoma. CDKN2 codes for a protein called p16 that is an important regulator of the cell division cycle; it stops the cell from synthesizing DNA before it divides. If p16 is not working properly, the skin cell does not have this brake on the cell division cycle and so can go on to proliferate unchecked. At some point this proliferation can be seen as a sudden change in skin growth or the appearance of a mole.

The most powerful weapons against melanoma are therefore 1) prevention, by using protective clothing and sun screen and 2) early detection, by recognizing changes in skin growths or the appearance of new growths. Insight may also be drawn for other cancer types by studying the molecular biology of p16, since the malfunction of other components of the p16 pathway have also been implicated in other cancers.


Gene sequence

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