A gene fault has been found to be the cause of a hereditary form of the skin cancer, melanoma.
An international research team, including scientists at Brisbane’s QIMR Berghofer Medical Research Institute, discovered that people with mutations in the POT1 gene were at extremely high risk of developing melanoma.
Professor Nick Hayward, co-author and head of QIMR Berghofer’s Oncogenomics Laboratory, said the findings would help identify people at high risk who should have regular screening.
“This finding significantly increases our understanding of why some families have a high incidence of melanoma,” Professor Hayward said.
“Pinpointing the genetic mutations which drive melanoma helps us to identify which people should be extra vigilant about their health and sun exposure habits.
“This gene has also previously been identified as potential drug target, so in future early detection may mean better treatment options.”
Every year in Australia, 11,000 people are diagnosed with melanoma. About one in 50 of them has a strong family history of the disease.
Scientists have previously identified the genetic mutations responsible for about 40% of all familial cases of melanoma.
This finding accounts for a further 3% of cases, where the mutations inactivate the POT1 gene which would otherwise protect the ends of our chromosomes from damage.
The research is published online today in the journal Nature Genetics.
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