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Postdoctoral research fellow and collaborator Angela Bononi in Carbone’s lab.

Update: In February 2021, the paper was selected as Paper of the Month by the National Institute of Environmental Health Sciences.

New research has found that individuals born with inherited mutations of the ‘BLM gene’ are more susceptible to developing mesothelioma, especially upon exposure to asbestos. The study was conducted by University of Hawaiʻi Cancer Center researcher Michele Carbone and collaborators, and was published in the Proceedings of the National Academy of Sciences.

Individuals who inherit two mutated copies of the BLM gene are affected by the rare Bloom Syndrome, characterized by short stature, a red rash over the nose and cheeks, mild immune deficiency and an increased susceptibility to develop various cancers. However, approximately one in every 900 individuals is born with only one inherited mutation of the BLM gene. The cells of these individuals produce only half of the normal amount of BLM protein, which was suspected, and has now been proven, to increase their risk of developing cancer.

Michele Carbone

Carbone’s previous discovery of the BAP1 mutation, which signifies an increased susceptibility to cancer, led to the investigation of other genetic mutations with similar functions—including those of the BLM gene. This resulted in the establishment of a specific clinical trial at the National Cancer Institute in Bethesda, Maryland, that addresses the potential future healthcare needs of carriers of germline mutations, who have a high risk of developing mesothelioma. In this trial, individuals born with genetic mutations are followed for prevention, early detection and personalized therapy when they develop cancer.

Population study in northern Nevada

To further this research, the National Institutes of Health has awarded Carbone a grant to study a population in northern Nevada, a population at risk of exposure to asbestos and to other harmful mineral fibers and carcinogens present in the natural environment.

The project is in collaboration with Haining Yang of the UH Cancer Center, and Joe Grzymski of the Desert Research Institute. The study’s goal is to identify carriers of genetic mutations who may be more susceptible to developing cancer when exposed to these carcinogens. The investigators have already found that 80 out of the 28,553 northern Nevada residents have inherited these BLM mutations, and should benefit greatly from prevention and early detection approaches.

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