Recurrent SMARCA4 mutations in small cell carcinoma of the ovary Journal Article
| Authors: | Jelinic, P.; Mueller, J. J.; Olvera, N.; Dao, F.; Scott, S. N.; Shah, R.; Gao, J.; Schultz, N.; Gonen, M.; Soslow, R. A.; Berger, M. F.; Levine, D. A. |
| Article Title: | Recurrent SMARCA4 mutations in small cell carcinoma of the ovary |
| Abstract: | Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, highly aggressive form of ovarian cancer primarily diagnosed in young women. We identified inactivating biallelic SMARCA4 mutations in 100% of the 12 SCCOHT tumors examined. Protein studies confirmed loss of SMARCA4 expression, suggesting a key role for the SWI/SNF chromatin-remodeling complex in SCCOHT. © 2014 Nature America, Inc. All rights reserved. |
| Keywords: | immunohistochemistry; clinical article; protein expression; gene mutation; human cell; somatic mutation; cancer recurrence; cancer growth; cancer staging; protein function; ovary cancer; carcinogenesis; heterozygosity loss; protein p21; short hairpin rna; nonsense mutation; chromatin assembly and disassembly; small cell carcinoma; protein swi; transcription factor snf; brm protein; brg1 protein; long term survival; human; female; priority journal; article; barrier to autointegration factor; small cell carcinoma of the ovary hypercalcemic type |
| Journal Title: | Nature Genetics |
| Volume: | 46 |
| Issue: | 5 |
| ISSN: | 1061-4036 |
| Publisher: | Nature Publishing Group |
| Date Published: | 2014-05-01 |
| Start Page: | 424 |
| End Page: | 426 |
| Language: | English |
| DOI: | 10.1038/ng.2922 |
| PROVIDER: | scopus |
| PUBMED: | 24658004 |
| PMCID: | PMC5699446 |
| DOI/URL: | |
| Notes: | Nat. Genet. -- Export Date: 2 June 2014 -- CODEN: NGENE -- Source: Scopus |
