Article
Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations.
Cancer biomarkers : section A of Disease markers - 1 Jan 2008
Macías M, Dean M, Atkinson A, Jiménez-Morales S, García-Vazquez F J, Saldaña-Alvarez Y, Ramírez-Bello J, Chávez M, Orozco L
Abstract excerpt
RB1 mutation detection has greatly improved the clinical management of retinoblastoma and provides critical information to predict the risk of inheriting the disease. We screened for RB1 gene sequence alterations in both peripheral blood and tumor specimens from a total of 48 Mexican retinoblastoma patients using an SSCP-based screening approach followed by sequencing. Overall, 21 (43.8%) cases were bilateral and...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Functional Laterality
- Genes, Retinoblastoma
- Humans
- Infant
- Loss of Heterozygosity
- Male
- Mexico