CCND1 polymorphism and age of onset of hepatoblastoma

Samart Pakakasama, Tina T L Chen, William Frawley, Carolyn Y. Muller, Edwin C. Douglass, Roger Lee, Bradley H Pollock, Gail E. Tomlinson

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

Cyclin D1, encoded by the gene CCND1, is a major regulator of the cell cycle transition from G1 phase to S phase. A CCND1 polymorphism (G to A) at codon 242, the boundary of exon 4 and intron 4, affects splicing such that exon 5 is not expressed in the A allele. Since exon 5 is involved in rapid turnover, the variant cyclin D1 corresponding to the A allele may have a longer half-life. A previous study demonstrated that in families with hereditary nonpolyposis colorectal cancer, the age of onset of colorectal cancer varied according to variation at this polymorphic site. We examined this CCND1polymorphism in a series hepatoblastoma, a childhood liver cancer that shares other molecular features with colon cancer. We determined in an analysis of 84 children with hepatoblastoma that the G/A exon 4 polymorphism in CCND1 is correlated with the age of onset of hepatoblastomas. The A/A genotype is associated with an earlier age of onset compared to the G/A or G/G genotype. The median age of patients with the G/G genotype was 22 months, compared to 17 months in patients with the G/A genotype and 11 months for the A/A genotype. These findings suggest that the CCND1 A polymorphism may contribute to tumor development in children with hepatoblastoma.

Original languageEnglish (US)
Pages (from-to)4789-4792
Number of pages4
JournalOncogene
Volume23
Issue number27
DOIs
StatePublished - Jun 10 2004
Externally publishedYes

Keywords

  • CCND1 childhood cancer
  • Cyclin D1
  • Hepatoblastoma

ASJC Scopus subject areas

  • Molecular Biology
  • Cancer Research
  • Genetics

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  • Cite this

    Pakakasama, S., Chen, T. T. L., Frawley, W., Muller, C. Y., Douglass, E. C., Lee, R., Pollock, B. H., & Tomlinson, G. E. (2004). CCND1 polymorphism and age of onset of hepatoblastoma. Oncogene, 23(27), 4789-4792. https://doi.org/10.1038/sj.onc.1207499