期刊
CANCER DISCOVERY
卷 10, 期 8, 页码 1103-1120出版社
AMER ASSOC CANCER RESEARCH
DOI: 10.1158/2159-8290.CD-19-1220
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资金
- National Institute of Environmental Health Sciences (NIEHS) [1R01ES030948-01]
- NCI [1R01CA237235-01A1, 1R01CA198138]
- U.S. Department of Defense (DoD) [CA150671]
- UH Foundation
- Early Detection Research Network NCI [U01CA111295-08]
- Genentech
- Belluck and Fox LLP
- Department of Defense [W81XWH-15-1-0578]
- NIH [R01 CA125970, P30CA240139, P30EY014801, 1P50CA196516, R01CA175754, RP180192]
- Research to Prevent Blindness Unrestricted Grant
Among more than 200 BAP1-mutant families affected by the BAP1 cancer syndrome, nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies during their lifetime, mostly uveal and cutaneous melanoma, mesothelioma, and clear-cell renal cell carcinoma. These cancer types are also those that, when they occur sporadically, are more likely to carry somatic biallelic BAP1 mutations. Mechanistic studies revealed that the tumor suppressor function of BAP1 is linked to its dual activity in the nucleus, where it is implicated in a variety of processes including DNA repair and transcription, and in the cytoplasm, where it regulates cell death and mitochondrial metabolism. BAP1 activity in tumor suppression is cell type- and context-dependent. BAP1 has emerged as a critical tumor suppressor across multiple cancer types, predisposing to tumor development when mutated in the germline as well as somatically. Moreover, BAP1 has emerged as a key regulator of gene-environment interaction.
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