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Genomics of Pediatric Renal Medullary Carcinomas
dbGaP
Data Resource:  dbGaP
Point of Contact:  
William C. Hahn, MD PhD.,  
Project

About This Dataset
We derived faithful cancer cell lines from patients with a diagnosis of renal medullary carcinomas (RMC). These models have been sequenced with whole genome, exome and transcriptome technologies along with the patient's primary germline and tumor samples. We took these faithful models and performed loss-of-function genetic perturbation screens (e.g. RNAi and CRISPR-Cas9) along with an orthogonal small molecule screen. We identified the ubiquitin-proteasome system as an important target in RMC as well as other SMARCB1 deficient cancers.
Core Data Elements
Number of Cases
15
Case Sex
Female (2); Male (13)
Case Age At Diagnosis
5 to 9 years (4); 10 to 14 years (5); 15 to 19 years (4); Pediatric and Young Adult (<40 years) (2)
Case Race
Black or African American (14); White (1)
Case Ethnicity
Not Reported (15)
Case Disease Diagnosis
Renal Medullary Carcinoma (15)
Number of Samples
30
Sample Anatomic Site
Blood (11); Kidney (14); Kidney; Cell Line (3); Pleural Fluid; Cell Line (2)
Sample Is Normal
Yes (12); No (18)
Additional Data Elements
DBGAP STUDY IDENTIFIER
GEO STUDY IDENTIFIER
Grant Information
132943-MRSG-18-202-01-TBG
American Cancer Society
K12HD052896
Child Health ResearcH Career Development Award (CHRCDA) Program (K12)
U01CA176058
The Dana-Farber Cancer Institute Cancer Target Discovery and Development Center
Published In
https://doi.org/10.7554/elife.44161
Charts
Male (13); Female (2)
13Male