QIMR Berghofer researchers led the international project which sequenced the genomes of individuals with a strong personal or family history of melanoma.
Professor Nick Hayward from the Institute’s Oncogenomics Laboratory said the mutations identified – in the genes ACD and TERF2IP – significantly increase the chance of melanomas at a young age.
“One participant had five family members diagnosed with melanoma – including at ages 23, 25 and 29,” Professor Hayward said.
“Another family had cases at ages 15 and 24.
“Many families with the mutations included members with multiple melanomas and other cancer types.”
Professor Hayward said finding the gene faults responsible for familial skin cancers could lead to targeted screening and better understanding of how the cancers develop.
“If an individual is aware they had one of these mutations, they and their family members could increase the frequency of their skin checks, and ensure they are minimizing sun exposure,” he said.
The QIMR Berghofer team was also part of a recent study that identified another gene fault – in the POT1 gene – which confers an increased risk of hereditary melanoma.
“POT1, ACD and TERF2IP are all part of a complex of genes which protect the end of our chromosomes from damage,” Professor Hayward said.
“We determined that collectively, these three mutations account for about 4% of high-density melanoma families.
The study also involved researchers and participants from the United States and Europe.
The paper has been published in the Journal of the National Cancer Institute (JNCI).
The National Health and Medical Research Council (NHMRC), Cancer Council Queensland and ANZ Trustees helped fund the study.