Genetic link to mesothelioma

A team from the University of Hawaii, Honolulu, and Fox Chase Cancer Center, Philadelphia, has found that people who carry a mutation in a gene, called BAP1, are susceptible to developing mesothelioma, the ‘Nature Genetics’ journal said.

Moreover, when these people are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma may be markedly increased, say the scientists.

“This discovery is a first step in understanding the role of the BAP1 gene and its potential utility when screening for mutations in those at high risk,” said Michele Carbone, who led the team.

She added: “Identifying people at greatest risk for developing mesothelioma, especially those exposed to dangerous levels of asbestos and erionite worldwide, is a task made easier by virtue of this discovery.”

The study describes two US families with a high incidence of mesothelioma associated with mutations of the BAP1 gene.

Looking more closely at two families with unusually high rates of mesothelioma, they saw that every person who had provided a sample and had developed mesothelioma or melanoma of the eye also carried mutations in the BAP1 gene. Further investigation led to sequencing the gene in 26 individuals who had developed mesothelioma but did not have a family history of the disease. Tumours from some 25 per  cent of this group carried mutations in BAP1 gene, and in two cases the mutations were inherited.

Team member Joseph Testa added: “This is the first study to demonstrate that individual genetic makeup can greatly influence susceptibility to mesothelioma.

“People exposed to dangerous levels of asbestos or erionite, those with a strong family history of mesothelioma, or those who have been previously diagnosed with a rare tumour of the eye known as uveal melanoma, may benefit from this new discovery.”

The study found evidence that some people with BAP1 gene mutations also developed breast, ovarian, pancreatic or renal cancers, suggesting the gene mutation may be involved in multiple cancer types.