{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ramos P"],"funding":["NCI NIH HHS"],"pagination":["427-9"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4332808"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["46(5)"],"pubmed_abstract":["Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis."],"journal":["Nature genetics"],"pubmed_title":["Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4."],"pmcid":["PMC4332808"],"funding_grant_id":["P30 CA006973"],"pubmed_authors":["Sekulic A","Shah SP","Prat J","Shumansky K","Anthony SP","Salhia B","Craig DW","Pressey JG","Karnezis AN","Marra MA","Farley JH","Roden RB","Russell ML","Huntsman DG","Zismann VL","Ramos P","Cunliffe HE","Corneveaux JJ","Hendricks WP","Prentice LM","Yang Y","Trent JM","Clarke BA","Kiefer J","Barrett MT","D'Angelo E","McEachron TA"],"additional_accession":[]},"is_claimable":false,"name":"Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.","description":"Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 May","modification":"2020-10-29T11:06:49Z","creation":"2019-03-27T01:46:41Z"},"accession":"S-EPMC4332808","cross_references":{"pubmed":["24658001"],"doi":["10.1038/ng.2928"]}}