Fox Chase Doc Uncovers Genetic Link for Mesothelioma

The discovery could help doctors diagnose mesothelioma earlier.

Local scientists have uncovered a genetic link to mesothelioma, an aggressive cancer usually found in the lungs that kills 3,000 people in the U.S. each year.

Dr. Joseph Testa of Philly’s Fox Chase Cancer Center teamed up with a researcher at the University of Hawaii to lead a study on the mutation of a gene called BAP1. They found that carriers of the mutated gene are particularly susceptible to mesothelioma, as well as a rare melanoma of the eye.

Mesothelioma is usually associated with exposure to asbestos. The cancer’s symptoms are vague during its earliest stages, so cases often go undiagnosed until stage 3 or 4—far too late in the game to operate. Patients usually die within six to nine months of diagnosis.

The findings could help doctors screen for individuals who are at particularly high risk for mesothelioma. “A genetic test could help doctors catch the disease earlier on, when it might still be treatable,” says Testa. Understanding the BAP1 gene could also lead to more targeted therapies for treatment.

Researchers zeroed in on BAP1 by studying two families with particularly high mesothelioma rates; every family member who had developed mesothelioma or melanoma of the eye turned out to be carriers of the BAP1 mutation. They also did gene-sequencing studies of 26 individuals diagnosed with mesothelioma but with no family history of the disease, and found that 25 percent of tumors from those subjects carried mutations of the BAP1 gene.

Beyond mesothelioma, the study found evidence that the gene mutation may be linked to breast, ovarian, pancreatic and renal cancer—meaning that people with the mutation may be at a higher risk for those diseases, too.

The research was decades in the making, says Testa, who has worked with Philadelphia’s Local 14 union of insulators and asbestos workers for years. His team analyzed tissue samples from some Local 14 members as part of the study, as well as samples from partners at New York University.

“For me, this is really the first of what we hope are going to be a number of genes that might predict whether someone will be susceptible to certain cancers,” says Testa. “I’m hopeful that this research will open doors for more research and better treatments.”