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- Title
CCND1 polymorphism and age of onset of hepatoblastoma.
- Authors
Pakakasama, Samart; Tina T-L Chen; Frawley, William; Muller, Carolyn Y.; Douglass, Edwin C.; Roger Lee; Pollock, Brad H/; Tomlinson, Gail E.
- 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.Oncogene (2004) 23, 4789-4792. doi:10.1038/sj.onc.1207499 Published online 10 May 2004
- Subjects
GENETIC polymorphisms; GENETIC research; CANCER patients; CHILD development; LIVER cancer; CANCER
- Publication
Oncogene, 2004, Vol 23, Issue 27, p4789
- ISSN
0950-9232
- Publication type
Article
- DOI
10.1038/sj.onc.1207499