A study looking at why some families are more at risk of melanoma

Cancer type:

Skin cancer





This study was looking at why people in some families are more likely to develop melanoma than people in other families.

Genes Open a glossary item are coded messages that tell cells how to behave. If certain genes are faulty or missing, you are more likely to develop melanoma. Another risk factor for melanoma is sunlight. Scientists thought that if your cells carry one of the faulty genes, sunlight exposure might make it even more likely that you may develop melanoma.

Researchers studied lots of families at high risk of melanoma, to see if they could work out factors they had in common with each other.

The aims of this study were to look at

  • Genetic risk factors for melanoma
  • Whether your surroundings increase your chance of developing melanoma (environmental risk factors)

Summary of results

The researchers looked at a large number of families and focused on 2 genes called CDKN2A and CDK4. If one of these inherited genes is faulty, people in the family are at an increased risk of developing melanoma.

CDKN2A and CDK4 are known as high penetrance genes. This means that they significantly increase the risk of melanoma if they are faulty.

The researchers point out that families with a change to the CDK4 gene are very rare, and they are continuing to look for other gene faults that increase risk of melanoma.

The study team are working with researchers in other countries in a group called the Melanoma Genetics Consortium. (GenoMEL). They have found that families with a high penetrance gene who live in sunny climates are at an even higher risk of melanoma. The GenoMEL website has information for people who have a strong family history of melanoma and discusses things to bear in mind if you are thinking about genetic testing.

We have based this summary on information from the team who ran the trial. The information they sent us has been reviewed by independent specialists (peer reviewed Open a glossary item) and published in a medical journal. The figures we quote above were provided by the trial team. We have not analysed the data ourselves.

Recruitment start:

Recruitment end:

How to join a clinical trial

Please note: In order to join a trial you will need to discuss it with your doctor, unless otherwise specified.

Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Chief Investigator

Professor Julia Newton-Bishop

Supported by

Cancer Research UK
Experimental Cancer Medicine Centre (ECMC)
NIHR Clinical Research Network: Cancer
The Leeds Teaching Hospitals NHS Trust

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Freephone 0808 800 4040

Last review date

CRUK internal database number:

Oracle 439

Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Cara took part in a clinical trial

A picture of Cara

"I am glad that taking part in a trial might help others on their own cancer journey.”

Last reviewed:

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