The Rationale For Genetic Testing

Skin Cancer Navigation

Most forms of cancer follow the path shown in the video. Gene mutation is the basis of all melanoma development and a well researched area, including a 2020 study from a specialist team in Philadelphia.

They highlighted the role UV exposure plays in melanoma malignancy. Patients who had experienced a blistering sunburn held a higher number of gene mutations in their tumours, those who had visited a tanning salon showed the worst mutation rate.

Avoiding these dangers applies to everyone and a range of genes can be involved but this does not mean everyone should consider themselves at equal risk. A small proportion of people are naturally more susceptible.

Genetic Disposition

A genetic profile pointing to a likelihood of developing malignant melanoma brings a double disadvantage. The condition can develop anyway but there is also an increased vulnerability to UV damage.

This showed in a piece of research by the University of Queensland, into younger melanoma patients. They tended to see melanomas appear in less sun exposed places and a high proportion were found to have innate, rather than UV created genetic mutations.

The study particularly mentioned variations in the CDKN2A gene. People with this mutation who lived in sunny Queensland, had around a 60% higher risk of developing melanoma than those living in a moderate climate.

Behaviour Matters

The Queensland patients had a combination of risk, natural genetic mutations and high sun exposure, although the principle would apply in most parts of the world. Some of us in the UK need to take a different view on melanoma.

Knowing you carry the CDKN2A mutation will allow you to make protective changes. These should include a sensible approach to sun exposure, inspecting your own skin regularly and periodic skin cancer screening by a dermatologist.

A family history of melanoma is a fair pointer to genetic difference, as is having a large number of moles. That doesn’t however apply in all cases and a skilled dermatologist may identify other symptoms which warrant a genetic test.

Whilst genetic testing for melanoma doesn’t directly diagnose the condition, the preventative actions results can bring are vital. With modern treatment, nobody should die from melanoma, as long as this is found at an early stage.

A quick and painless testing procedure saves lives, helps to avoid intrusive treatment and increases control over our future.