BAP1 tumor predisposition syndrome is an inherited condition in which a person carries a harmful change in one copy of the BAP1 gene in every cell of the body. Carriers have a higher risk of several cancers, including mesothelioma, uveal (eye) melanoma, skin melanoma and kidney cancer.
Origin
The syndrome was described in 2011, when researchers studying families with several cases of mesothelioma, and separately families with eye and skin melanomas, found inherited mutations in the BAP1 gene. BAP1 is a tumor suppressor gene; losing the second, working copy in a cell removes a brake on cancer growth.
Significance in Asbestos Context
Only a small percentage of people with mesothelioma carry an inherited BAP1 mutation. Defendants sometimes point to a positive genetic test as an alternative cause of the disease. The science does not support treating the two as either/or: many carriers who develop mesothelioma were also exposed to asbestos, and laboratory studies suggest carriers may be more susceptible to asbestos, not that asbestos is irrelevant. Mesotheliomas in carriers also tend to occur at younger ages and to have a better prognosis. Note that loss of BAP1 staining in a tumor sample is common in mesothelioma and is not the same as an inherited mutation; only a germline test (blood or saliva) shows the syndrome.
Example Sentence
Her germline test found a BAP1 mutation, and her oncologist referred her siblings for genetic counseling while her lawyers documented her father's work clothes as the source of her asbestos exposure.
Related Terms
BAP1, Tumor Suppressor Gene, Somatic Mutation, Mesothelioma, Specific Causation, Idiopathic Mesothelioma
Notes
- A tumor report saying "BAP1 loss" is not a genetic diagnosis. Ask whether a germline (blood or saliva) test was done.
- If you carry a BAP1 mutation, relatives may benefit from genetic counseling and eye and skin screening.
- Tell your lawyer about any genetic testing; it will come up in discovery, and an expert may need to address it.
In the research library
91 studies in our medical research library mention BAP1 Tumor Predisposition Syndrome in the title or abstract. Among the most cited:
- Germline BAP1 mutations predispose to malignant mesotheliomaJ.R. Testa, M. Cheung, J. Pei, et al, 2011 · Nature Genetics · cited 817 times
- BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITsM. Carbone, L.K. Ferris, F. Baumann, et al, 2012 · Journal of Translational Medicine · cited 244 times
- Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survivalF. Baumann, E. Flores, A. Napolitano, et al, 2015 · Carcinogenesis · cited 213 times
- Comprehensive review of BAP1 tumor predisposition syndrome with report of two new casesK. Rai, R. Pilarski, C.M. Cebulla, et al, 2016 · Clinical Genetics · cited 187 times
- Germline BAP1 mutations induce a Warburg effectA. Bononi, H. Yang, C. Giorgi, et al, 2017 · Cell Death and Differentiation · cited 111 times
The journals that publish most on it: Journal of Thoracic Oncology (5), Cancer Genetics (4), Genes, Chromosomes & Cancer (3).
Category: Genetics & Oncology · All Lexicon terms A–Z
This page is provided for general informational purposes and does not constitute legal advice. Every asbestos case turns on its own facts, exposure history, diagnosis, deadlines, available evidence, and applicable law. Reviewing this page does not create an attorney-client relationship. For advice about your specific situation, call 833-4-ASBESTOS for a free case review.