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Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine
dbGaP
Data Resource:  dbGaP
Point of Contact:  
David A. Wheeler, PhD,  
Project

About This Dataset
Craniopharyngioma is rare dysontogenic tumor that occurs at the base of the brain, above the pituitary gland. It is one of the most commonly diagnosed brain tumors in children aged 5-10 years old. In the United States, there are an estimated 350 new cases of craniopharyngioma diagnosed each year. Craniopharyngioma is thought to be derived from remnants of the developmental (embryonic) tissue from which the pituitary gland is derived. Although craniopharyngioma is a histologically benign tumor, it has a malignant behavior. They occur most commonly in the sellar and suprasellar regions, posing great challenges to clinical management. Activating mutations in the beta-catenin gene, CTNNB1 were identified in the majority of adamantinomatous craniopharyngiomas whereas the contribution of other genetic factors has yet to be explored. With the collaboration of Texas Children's Cancer and Hematology Centers at Baylor College of Medicine, the Human Genome Sequencing Center had access to 29 tumor specimens and matched normal blood samples from Craniopharyngioma patients. Whole-exome sequencing was performed to characterize the profile of somatic mutations. The deposited BAM files record the sequence alignments used to generate the mutation data.
Core Data Elements
Number of Cases
29
Case Sex
Female (11); Male (18)
Case Age At Diagnosis
0 to 4 years (10); 5 to 9 years (13); 10 to 14 years (6)
Case Race
Black or African American (8); White (8); Not Reported (12); Unknown (1)
Case Ethnicity
Hispanic or Latino (12); Not Hispanic or Latino (17)
Case Disease Diagnosis
Craniopharyngioma (29)
Case Tumor Site
Brain (29)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
5U54HG003273
The Human Genome Sequencing Center
Charts
Male (18); Female (11)
18Male