Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

K. J. Johnson*, M. J. Fisher, R. L. Listernick, K. N. North, E. K. Schorry, D. Viskochil, M. Weinstein, J. B. Rubin, D. H. Gutmann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant cancer syndromes worldwide. Individuals with NF1 have a wide variety of clinical features including a strongly increased risk for pediatric brain tumors. The etiology of pediatric brain tumor development in NF1 is largely unknown. Recent studies have highlighted the contribution of parent-oforigin effects to tumorigenesis in sporadic cancers and cancer predisposition syndromes; however, there is limited data on this effect for cancers arising in NF1. To increase our understanding of brain tumor development in NF1, we conducted a multi-center retrospective chart review of 240 individuals with familial NF1 who were diagnosed with a pediatric brain tumor (optic pathway glioma; OPG) to determine whether a parent-of-origin effect exists overall or by the patient's sex. Overall, 50 % of individuals with familial NF1 and an OPG inherited the NF1 gene from their mother. Similarly, by sex, both males and females were as likely to inherit the NF1 gene from their mother as from their father, with 52 % and 48 % of females and males with OPGs inheriting the NF1 gene from their mother. In conclusion, in contrast to findings from other studies of sporadic cancers and cancer predisposition syndromes, our results indicate no parent-of-origin effect overall or by patient sex for OPGs in NF1.

Original languageEnglish (US)
Pages (from-to)653-656
Number of pages4
JournalFamilial Cancer
Volume11
Issue number4
DOIs
StatePublished - Dec 2012

Funding

Keywords

  • Brain tumor
  • Neurofibromatosis type 1
  • Optic pathway glioma
  • Parent-of-origin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Oncology
  • Cancer Research

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