Scientists have discovered a melanoma gene fault that could help identify which people should have regular screening.
Australian scientists have discovered a gene fault that causes melanoma in some families.
This could lead to improved prevention, detection and treatment, says Professor Nick Hayward of the QIMR Berghofer research institute in Queensland.
Prof Hayward is part of an international team that found people with the POT1 gene mutation are at extremely high risk of developing melanoma.
The finding adds to growing knowledge about the genetic links to melanoma and could help identify which people should have regular screening.
“Carriers could benefit from more rigorous six-monthly skin examinations,” says Prof Hayward, co-author of a study published in the journal Nature Genetics.
Carriers should also be extra careful about their sun exposure to minimise their likelihood of developing melanoma.
Around 11,000 Australians a year are diagnosed with melanoma and around one in 50 has a strong family history.
It is believed the POT1 gene mutation causes a minority of these cases.
At present gene testing is done only if an individual has a strong family history of that cancer type, for example the BRCA tests for breast and ovarian cancer.
“It is possible that from now some familial cancer clinics will recommend POT1 testing in high-density melanoma families,” said Prof Hayward.
This is not funded by the PBS and costs from $500 to $3000.