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Mesothelioma and melanoma of the eye have been linked to the BAP1 gene

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Mesothelioma and melanoma of the eye have been linked to the BAP1 gene based on results from a study just published online in Nature Genetics by scientists from the University of Hawaii Cancer Center and Fox Chase Cancer Center. The study could lead to screening for mutations in high-risk patients based on the presence of BAP1 gene. Annually, more than 3000 Americans are diagnosed with mesothelioma, possibly caused by exposure to asbestos or erionite. Malignant mesothelioma is an aggressive tumor with symptoms of dyspnea, chest pain, and cough and the occurrence of pleural effusions with pleural plaques and calcifications seen on chest x-ray. Palliative radiation therapy can be effective in reducing symptoms, especially from metastases. Current clinical trials emphasize a combination of surgery, radiation, and chemotherapy. Uveal melanoma is the most common primary intra-ocular malignancy in adults. The increasing ability to identify high-risk patients with primary uveal melanoma using molecular prognostication should allow for the more rational use of adjuvant systemic therapy and should facilitate testing of these approaches.

For basic cancer research, the American Association for Cancer Research will host a conference titled “Frontiers in Basic Cancer Research” on September 14-18, 2011, at the InterContinental San Francisco Hotel in San Francisco, California.

Suggested reading:

1. Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma [published online ahead of print August 28, 2011]. Nat Genet.

2. Jensen DE, Proctor M, Marquis ST, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene.1998;16:1097-1112.

3. Heilo A, Stenwig AE, Solheim OP. Malignant pleural mesothelioma: US-guided histologic core-needle biopsy. Radiology. 1999;211:657-659

4. Division of Respiratory Disease Studies, U.S. Department of Health and Human Services, Public Health Service, Centers for Disease Control and Prevention. Work-Related Lung Disease Surveillance Report 2002. DHHS (NIOSH) number 2003–111. May 2003.

5.Singh AD, Borden EC. Metastatic uveal melanoma. Ophthalmol Clin North Am. 2005;18:143-150

6. American Thoracic Society. Diagnosis and initial management of nonmalignant diseases related to asbestos. Am J Respir Crit Care Med. 2004;170:691-715.