[5 min read] How gene variations affect melanoma risk

Australian scientists have identified a way to help primary care physicians determine a patient’s risk of developing melanoma.

A team at The University of Queensland Diamantina Institute uncovered the specific gene variations affecting the number and types of moles that appear on the body, and their role in causing skin cancer.

The research aimed to investigate the genetic underpinnings of different naevi types and understand how these affect melanoma risk.

Based on this work, the number of moles in each category can give a more complete assessment of melanoma risk rather than just the number of moles alone.

Three key mole classes – reticular, globular and non-specific – were magnified under a dermatoscope to assess their pattern and risk factors.

The study found that people who had more non-specific mole patterns increased their melanoma risk by two per cent with every extra mole carried.

As patients age, they tend to increase the amount of non-specific moles on their body, and the risk of developing melanoma increases.

Globular and reticular mole patterns were also found to change over time.

Globular patterns were shown to decrease as patients got older, typically fading out after the age of 50 to 60.

Reticular moles also decreased over time but were likely to develop into the non-specific pattern.

A cohort of more than 1,200 people – half of whom were melanoma patients – were recruited into the almost nine-year study. 

Their results were then overlayed with genetic testing, which found variations in four major genes.

Major relationships were found between genes and the number of moles and patterns when looking at the DNA. Certain gene types influenced the number of different naevi types; for example, the IRF4 gene was found to strongly influence the number of globular naevi found on the body.

The findings will help physicians who manage patients with skin cancer concerns to better understand mole patterns and provide more holistic care to patients who may be at risk of melanoma.

Clinicians have long been interested in how pigmented moles relate to melanoma and melanoma risk. With the availability of dermoscopes and imaging, these results provide a new layer of understanding to guide clinical practice.


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Read more recent research.

Source: Journal of Investigative Dermatology (DOI: 10.1016/j.jid.2019.05.032).

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