Lessons from genome-wide studies of melanoma: towards precision medicine

ABSTRACT

Introduction: Cutaneous melanoma is a malignancy with complex aetiology that could be considered as a result of interplay between phenotypic characteristics, various environmental exposures and genetic variants.

Areas covered: Several genes have been found to be robustly associated with risk for melanoma. Emerging approaches such as genome-wide association studies have revealed several such postulated genes but most of the identified loci have weak to moderate risk effects, with Odds Ratios ranging, mostly, between 1.10 and 1.40. Ideally, such discoveries could shift research towards precision or individualized medicine on the prevention front and could lead to better individual risk prediction; however current findings have not highlighted adequate number of disease pathways or variants with large effect sizes and population attributable risk.

Expert commentary: The potential impact of larger studies and big data to improve health, prevent and detect melanoma at an earlier stage and personalize interventions could be tremendous in the near future.

KEYWORDS:

• Cutaneous melanoma
• genetic association
• GWAS
• risk prediction
• treatment
• precision medicine

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

No funding to declare.