Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
American journal of medical genetics. Part A - 1 Sept 2016
Maas Saskia M, Vansenne Fleur, Kadouch Daniel J M, Ibrahim Abdulla, Bliek Jet, Hopman Saskia, Mannens Marcel M, Merks Johannes H M, Maher Eamonn R, Hennekam Raoul C
Abstract excerpt
Patients with Beckwith-Wiedemann syndrome (BWS) have an increased risk to develop cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending on the cause of BWS. We obtained clinical and molecular data in our cohort of children with BWS, including tumor occurrences, and correlated phenotype and genotype. We obtained similar data from larger cohorts reported in the literature....
Topics
- Adolescent
- Beckwith-Wiedemann Syndrome
- Child
- Cohort Studies
- DNA Methylation
- Female
- Genetic Association Studies
- Genomic Imprinting
- Hepatoblastoma
- Humans