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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Published in:Nature genetics Vol. 46; no. 5; pp. 424 - 426
Main Authors: 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
Language:English
Published: New York Nature Publishing Group US 01.05.2014
Nature Publishing Group
Subjects:
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
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Abstract 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.
AbstractList Small cell carcinoma of the ovary, hypercalcemie 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.
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.
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. [PUBLICATION ABSTRACT]
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.
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.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.
Audience Academic
Author Dao, Fanny
Schultz, Nikolaus
Scott, Sasinya N
Gao, JianJiong
Shah, Ronak
Olvera, Narciso
Gonen, Mithat
Jelinic, Petar
Soslow, Robert A
Mueller, Jennifer J
Levine, Douglas A
Berger, Michael F
Author_xml – sequence: 1
  givenname: Petar
  surname: Jelinic
  fullname: Jelinic, Petar
  organization: Department of Surgery, Memorial Sloan-Kettering Cancer Center
– sequence: 2
  givenname: Jennifer J
  surname: Mueller
  fullname: Mueller, Jennifer J
  organization: Department of Surgery, Memorial Sloan-Kettering Cancer Center
– sequence: 3
  givenname: Narciso
  surname: Olvera
  fullname: Olvera, Narciso
  organization: Department of Surgery, Memorial Sloan-Kettering Cancer Center
– sequence: 4
  givenname: Fanny
  surname: Dao
  fullname: Dao, Fanny
  organization: Department of Surgery, Memorial Sloan-Kettering Cancer Center
– sequence: 5
  givenname: Sasinya N
  surname: Scott
  fullname: Scott, Sasinya N
  organization: Department of Pathology, Memorial Sloan-Kettering Cancer Center
– sequence: 6
  givenname: Ronak
  surname: Shah
  fullname: Shah, Ronak
  organization: Department of Pathology, Memorial Sloan-Kettering Cancer Center
– sequence: 7
  givenname: JianJiong
  surname: Gao
  fullname: Gao, JianJiong
  organization: Computational Biology Program, Memorial Sloan-Kettering Cancer Center
– sequence: 8
  givenname: Nikolaus
  surname: Schultz
  fullname: Schultz, Nikolaus
  organization: Computational Biology Program, Memorial Sloan-Kettering Cancer Center
– sequence: 9
  givenname: Mithat
  surname: Gonen
  fullname: Gonen, Mithat
  organization: Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
– sequence: 10
  givenname: Robert A
  surname: Soslow
  fullname: Soslow, Robert A
  organization: Department of Pathology, Memorial Sloan-Kettering Cancer Center
– sequence: 11
  givenname: Michael F
  surname: Berger
  fullname: Berger, Michael F
  organization: Department of Pathology, Memorial Sloan-Kettering Cancer Center
– sequence: 12
  givenname: Douglas A
  orcidid: 0000-0003-1038-8232
  surname: Levine
  fullname: Levine, Douglas A
  email: levine2@mskcc.org
  organization: Department of Surgery, Memorial Sloan-Kettering Cancer Center
BackLink https://www.ncbi.nlm.nih.gov/pubmed/24658004$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright Springer Nature America, Inc. 2014
COPYRIGHT 2014 Nature Publishing Group
Copyright Nature Publishing Group May 2014
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Petar Jelinic & Jennifer J Mueller
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Snippet 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...
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, highly aggressive form of ovarian cancer primarily diagnosed in young women. We...
Small cell carcinoma of the ovary, hypercalcemie type (SCCOHT) is a rare, highly aggressive form of ovarian cancer primarily diagnosed in young women. We...
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StartPage 424
SubjectTerms 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
Title Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
URI https://link.springer.com/article/10.1038/ng.2922
https://www.ncbi.nlm.nih.gov/pubmed/24658004
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https://pubmed.ncbi.nlm.nih.gov/PMC5699446
Volume 46
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