Article
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
Cancer letters - 8 Aug 2006
Hanks Sandra, Coleman Kim, Summersgill Brenda, Messahel Boo, Williamson Dan, Pritchard-Jones Kathryn, Strefford Jon, Swansbury John, Plaja Alberto, Shipley Janet, Rahman Nazneen
Abstract excerpt
We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by constitutional aneuploidies and childhood cancer predisposition. To further investigate the role of BUB1B in cancer predisposition we performed comparative genomic hybridization analysis in an embryonal rhabdomyosarcoma from an MVA case with biallelic BUB1B mutations, revealing...
Topics
- Aneuploidy
- Child
- Humans
- Mosaicism
- Mutation
- Neoplasms
- Nucleic Acid Hybridization
- Protein Kinases
- Protein Serine-Threonine Kinases