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Genetic Variation in the Folate Pathway and Risk of Pediatric Brain Cancers

18 Years
Open (Enrolling)
Neurofibromatosis Type 1, Pediatric Brain Tumor

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Trial Information

Genetic Variation in the Folate Pathway and Risk of Pediatric Brain Cancers

The prenatal period is a developmentally vulnerable time point during which environmental
conditions, including nutrition, can have life-long impacts on health.1,2 This is
particularly relevant to many childhood cancers that are thought to initiate during
pregnancy.3 As a consequence, there has been intense interest in whether prenatal exposures
can modulate childhood cancer risk.4-6 It is important to recognize that both maternal and
offspring genetic factors including those in nutritional pathways may play an important role
in pediatric cancer risk through their effect on the child's exposure to nutrients important
in development during the prenatal period. The purpose of this research study is to evaluate
whether there are any maternal or offspring genetic factors in the folate pathway that may
contribute to the development of brain tumors in children with Neurofibromatosis Type 1
through analysis of DNA samples collected from families.

Inclusion Criteria:

- Pediatric participant (born during 1994-2012) with NF1 and diagnosed with a brain

- Biological mother or father (or full sibling if mother or father is unable to
participate) able to participate

- All family members (pediatric participant, biological mother, and biological father
or full sibling) must be willing to contribute a blood or saliva sample

- ability to understand consent forms

Exclusion Criteria:

-those who do not meet inclusion criteria

Type of Study:


Study Design:

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Principal Investigator

Kimberly J Johnson, PhD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Washington University in St. Louis


United States: Institutional Review Board

Study ID:




Start Date:

October 2012

Completion Date:

December 2013

Related Keywords:

  • Neurofibromatosis Type 1
  • Pediatric Brain Tumor
  • Brain Neoplasms
  • Neurofibromatoses
  • Neurofibromatosis 1
  • Osteitis Fibrosa Cystica



Washington UniversitySt. Louis, Missouri  63110