Scientists find genetic link to mesothelioma
Scientists have found that individuals who carry a mutation in a gene called BAP1 are susceptible to developing two forms of cancer mesothelioma, and melanoma of the eye. Additionally, when these individuals are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma, an aggressive cancer of the lining of the chest and abdomen, may be markedly increased.
The study, published online Aug. 28, 2011, in Nature Genetics, describes two U.S. families with a high incidence of mesothelioma, as well as other cancers, associated with mutations of the BAP1 gene. The research was funded by the National Cancer Institute (NCI), part of the National Institutes of Health, and led by scientists at the University of Hawaii Cancer Center, Honolulu, and Fox Chase Cancer Center, Philadelphia.
Mesothelioma tumors are typically associated with asbestos and erionite exposure. Erionite, a naturally occurring mineral fiber similar to asbestos, is found in rock formations and volcanic ash. Deposits have been located in at least 12 states.
Only a small fraction of individuals exposed to erionite or asbestos actually develop mesothelioma, one of the deadliest forms of cancer that kills about 3,000 people each year in the United States, with half of those diagnosed dying within one year. Additionally, rates of new cases of mesothelioma in parts of the world, including Europe and China, have risen steadily over the past decade.
"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, M.D., Ph.D., study co-leader and director of the University of Hawaii Cancer Center. "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."
Joseph R. Testa, Ph.D., study co-leader and Carol and Kenneth E. Weg chair in Human Genetics at Fox Chase Cancer Center, 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 tumor 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. Only about 10 percent of women with an inherited risk of breast or ovarian cancer carry mutations in the genes BRCA1 or BRCA2, which are known to be associated with those diseases. Consequently, some inherited risk of breast and ovarian cancer may stem from mutations in BAP1 genes. "Also, it appears likely that other genes, in addition to BAP1, will be found to be associated with elevated risk of mesothelioma," said Testa.
The researchers first suspected that mutations in the BAP1 gene might underlie mesothelioma in people with a strong family history of the disease after noticing genetic changes in or near other stretches of DNA where the BAP1 gene is located. 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. Tumors from about 25 percent of this group carried mutations in the BAP1 gene, and in two cases the mutations were inherited. Both of the individuals with inherited mutations had previously developed melanoma of the eye.
"The discovery that the BAP1 gene is involved in a new cancer syndrome characterized especially by uveal melanoma and mesothelioma provides yet another example of the critical importance of the detailed genetic analysis of human tumors," said Donald Blair, Ph.D., NCI. "Such analysis can lead to the discovery of genes involved in the same tumors that arise spontaneously. This is an important advance in developing our understanding of the biological mechanisms underlying these tumors."
Another component of NIH, the National Institute of Environmental Health Sciences, is continuing to work on this public health problem in a number of critical research areas, including understanding how people, especially children, are exposed to asbestos. Efforts are also under way to improve knowledge of what makes fibers hazardous in terms of their physical characteristics and an individual's susceptibility.
More information: Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass H, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang, H and Carbone M. Germline BAP1 mutations predispose to malignant Mesothelioma. Nature Genetics. Online August 28, 2011. DOI: 10.1038/ng.912
Provided by National Institutes of Health
- Exposure to North Dakota road material may increase risk of lung cancer Dec 09, 2010 | not rated yet | 0
- New study finds cancer-causing mineral in US road gravel Jul 25, 2011 | not rated yet | 0
- Mystery unraveled: How asbestos causes cancer Jun 29, 2010 | not rated yet | 0
- Gene identified for spread of deadly melanoma Nov 04, 2010 | not rated yet | 0
- Asbestos disease projections too low Apr 02, 2007 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Can human genes be patented? That was the question posed by Alan J. Snyder, vice president and associate provost for research and graduate studies at Lehigh, and Lee Kaplan, scientific director of cellular and molecular genetics ...
Genetics 1 hour ago | 4 / 5 (1) | 0
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics May 22, 2013 | 4.5 / 5 (4) | 0 |
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics May 16, 2013 | 5 / 5 (1) | 3 |
(Medical Xpress)—A new study by researchers in the US has shown that an ancient virus can be modified to help in the fight against the simian immunodeficiency virus SIV, which is the equivalent in monkeys ...
20 minutes ago | not rated yet | 0 |
How can healthy people who hear voices help schizophrenics? Finding the answer for this is at the centre of research conducted at the University of Bergen.
11 minutes ago | not rated yet | 0
Researchers from London's Kingston University have begun a two-year study which could help prolong the lives of people with colorectal tumours.
1 minute ago | not rated yet | 0
(Medical Xpress)—Research by Stanford scholar Emma Seppala at the Center for Compassion and Altruism Research and Education found that post-traumatic stress disorder decreased in veterans who participated ...
21 minutes ago | not rated yet | 0
The individualisation of drug treatments to support patients to self-manage their conditions is a concept that sits at the heart of policy, but a recent study in BMJ Open shows that there is no concrete defini ...
11 minutes ago | not rated yet | 0
(Medical Xpress)—UCD researchers led by Conway Fellow, Professor David Brayden in UCD School of Veterinary Medicine have successfully reduced inflammation in the swollen arthritic knees of a murine model using a novel nanoparticle.
41 minutes ago | not rated yet | 0