期刊
CANCER GENETICS
卷 207, 期 9, 页码 365-372出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2014.04.004
关键词
Rhabdoid tumor; SMARCB1; chromatin-remodeling complex; SWI/SNF; SNF5
资金
- Alex's Lemonade Stand Innovation Award
- Hyundai Hope on Wheels Award
- Garrett B. Smith Foundation
- Miles for Mary
- Cure AT/RT Now
- Avalanna Fund
- National Cancer Center
- [R01CA113794]
- [R01CA172152]
SMARCB1 (INI1/SNF5/BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex, is inactivated in the large majority of rhabdoid tumors, and germline heterozygous SMARCB1 mutations form the basis for rhabdoid predisposition syndrome. Mouse models validated Smarcb1 as a bona fide tumor suppressor, as Smarcb1 inactivation in mice results in 100% of the animals rapidly developing cancer. SMARCB1 was the first subunit of the SWI/SNF complex found mutated in cancer. More recently, at least seven other genes encoding SWI/SNF sub-units have been identified as recurrently mutated in cancer. Collectively, 20% of all human cancers contain a SWI/SNF mutation. Consequently, investigation of the mechanisms by which SMARCB1 mutation causes cancer has relevance not only for rhabdoid tumors, but also potentially for the wide variety of SWI/SNF mutant cancers. Here we discuss normal functions of SMARCB1 and the SWI/SNF complex as well as mechanistic and potentially therapeutic insights that have emerged.
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