DAC: DAC: British Columbia Cancer Agency (BCCA), PHSAs Technology Development Office, Data Access Committee

DAC Accession Contact Person Email Access Information
EGAC00001000122 Sarah_Jane Lee TDOadmin@phsa.ca http://www.ebi.ac.uk/ega/dacs/EGAC00001000122

This DAC controls 1 datasets:

Dataset Accessionsort descending Technology Samples Description
EGAD00001000794 Illumina HiSeq 2000; 11 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 patients 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.

DAC description