Trial Information

Molecular Epidemiology of Pediatric Germ Cell Tumors

OBJECTIVES:

I. To evaluate associations between genetic variation and pediatric germ cell tumor (GCT)
using a case-parent triad design to identify variants in four genes, KITLG, SPRY4, BAK1, and
DMRT1, associated with pediatric GCT.

II. To evaluate associations between genetic variation and pediatric GCT using a case-parent
triad design to include targeted genotyping of single nucleotide polymorphisms (SNPs) in
selected key pathways essential for normal in utero germ cell development, specifically
genes involved in survival of germ cells during migration, apoptosis, and cell cycle
control.

III. To explore inter- and intratumoral heterogeneity in DNA methylation by tumor histology.

OUTLINE: This is a multicenter study.

Patients and parents or siblings undergo saliva sample collection. DNA extracted from saliva
samples and from patients' archived tumor tissue samples is genotyped and analyzed by
methylation arrays, including methylation-specific polymerasechain reaction (PCR)
(pyrosequencing) assays. Genetic variation between pediatric germ cell tumors and parent or
sibling is also analyzed. Patients' and family members' health history, demographics, and
environmental exposures are collected by questionnaires or telephone interviews. Medical
history, such as chronic conditions, prescribed medications and congenital abnormalities,
including cryptorchidism, is also collected. Birth characteristics of the child, including
birth weight and gestational age, are also captured.