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Genetic mutations warn of skin cancer risk
Date:3/30/2014

in the future, it may be possible that early detection will facilitate better management of this disease."

The team also found that there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours. It seems that mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.

"Our research is making a real difference to understanding what causes melanoma and ultimately therefore how to prevent and treat melanoma and is a prime example of how genomics can transform public health," says Professor Julia Newton Bishop, co-senior author from the University of Leeds. "This study would not have been possible without the help and patience from the families that suffer from these devastating, inherited forms of melanoma."

The team are currently working on developing cells and mice with an inactive POT1 gene. These will be used to test potential drug therapies that alter telomere metabolism.

Dr Safia Danovi, Cancer Research UK's senior science communications officer, said: "This is a step forward for people with a strong family history of melanoma, the most dangerous form of skin cancer. But it's important to remember that, for most of us, avoiding sunburn and sunbeds is the best way to reduce the risk of this disease."


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Contact: Aileen Sheehy
press.office@sanger.ac.uk
44-012-234-92368
Wellcome Trust Sanger Institute
Source:Eurekalert

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