An international research team, including scientists at QIMR Berghofer Medical Research Institute, has identified a specific gene fault which causes a hereditary form of melanoma.
The team found that people with mutations in the POT1 gene were at extremely high risk of developing melanoma.
Co-author and head of QIMR Berghofer’s Oncogenomics Laboratory, Professor Nick Hayward, 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 thePOT1 gene which would otherwise protect the ends of our chromosomes from damage.
”The identification of POT1 mutations in melanoma informs us of a previously unrecognised pathway that is important in regulating melanoma development.” Professor Hayward said.
The study involved researchers from the UK, USA, Netherlands, Spain and Australia.
The research is published online today in Nature Genetics.
This work was partly funded by the National Health and Medical Research Council (NHMRC), Cure Cancer Australia, and the Cancer Council Queensland.