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Personalizing melanoma medicine in the molecular era

Tsao, H.

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doi: 10.1097/01.cmr.0000382740.00227.c8
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Recent advances in our understanding of the human genome have opened up new vistas for clinicians in terms of personalizing care. In regards to melanoma, the two greatest impacts of molecular medicine have been in personalizing melanoma risk and personalizing therapeutic choice.

After nearly 2 decades of investigation, the genetic bases for both high risk familial melanoma and low-to-moderate risk sporadic cases have been slowly uncovered. Several biological inputs appear to play significant roads in the biogenesis of melanomas. These include cell cycle genes in the RB pathway, UV repair genes and pigmentation genes. The heritable causes of nevus formation are also being discovered; interestingly, these appear related but distinct from melanoma.

In terms of somatic genetics, it took less than 10 years between the first description of BRAFV600E mutations in melanoma and the infusion of anti-BRAFV600E therapeutics into clinical trial. With the deep resequencing of a single melanoma genome, it has become clear that melanomas, like other cancers, are saturated with structural changes both subtle and cataclysmic. The intense generation of diversity seen at the sequence level suggests that absolute cure for melanoma is still a challenge given the capacity for ‘escape genetics.’

© 2010 Lippincott Williams & Wilkins, Inc.