Recurrent SMARCA4 mutations in small cell carcinoma of the ovary

Douglas Levine and colleagues identify recurrent inactivating mutations in the SWI/SNF complex member SMARCA4 in 12 of 12 samples of small cell carcinoma of the ovary, hypercalcemic type. These findings open the door for the development of targeted therapies to treat this rare but deadly cancer. Sma...

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Veröffentlicht in:Nature genetics Jg. 46; H. 5; S. 424 - 426
Hauptverfasser: Jelinic, Petar, Mueller, Jennifer J, Olvera, Narciso, Dao, Fanny, Scott, Sasinya N, Shah, Ronak, Gao, JianJiong, Schultz, Nikolaus, Gonen, Mithat, Soslow, Robert A, Berger, Michael F, Levine, Douglas A
Format: Journal Article
Sprache:Englisch
Veröffentlicht: New York Nature Publishing Group US 01.05.2014
Nature Publishing Group
Schlagworte:
45/23
631/208/212/2166
82/51
Agriculture
Amino acids
Animal Genetics and Genomics
Base Sequence
Biomedicine
brief-communication
Cancer Research
Cancer therapies
Carcinoma, Small Cell - genetics
Chromatin Assembly and Disassembly - genetics
Computational Biology
DNA binding proteins
DNA Helicases - genetics
DNA, Complementary - genetics
Female
Gene Components
Gene expression
Gene Function
Gene mutations
Genetic aspects
Health aspects
Human Genetics
Humans
Immunohistochemistry
Medical research
Molecular Sequence Data
Mutation
Mutation - genetics
Nuclear Proteins - genetics
Ovarian cancer
Ovarian Neoplasms - genetics
Protein expression
Proteins
Sequence Analysis, DNA
Studies
Transcription Factors - genetics
Tumors
ISSN:1061-4036, 1546-1718, 1546-1718
Online-Zugang:Volltext
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Zusammenfassung:Douglas Levine and colleagues identify recurrent inactivating mutations in the SWI/SNF complex member SMARCA4 in 12 of 12 samples of small cell carcinoma of the ovary, hypercalcemic type. These findings open the door for the development of targeted therapies to treat this rare but deadly cancer. 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.
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These authors contributed equally to this work.
Petar Jelinic & Jennifer J Mueller
ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.2922