Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23
Article first published online: 6 SEP 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 2, pages 110–116, February 2012
How to Cite
Dahdaleh, F., Carr, J., Calva, D. and Howe, J. (2012), Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23. Clinical Genetics, 81: 110–116. doi: 10.1111/j.1399-0004.2011.01763.x
- Issue published online: 12 JAN 2012
- Article first published online: 6 SEP 2011
- Accepted manuscript online: 11 AUG 2011 07:42PM EST
- Received 13 June 2011, revised and accepted for publication 8 August 2011
- chromosome 10q22–23;
- copy number variation;
- Cowden syndrome;
- juvenile polyposis;
Dahdaleh FS, Carr JC, Calva D, Howe JR. Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23.
Juvenile polyposis (JP) is an autosomal dominant hamartomatous polyposis syndrome that carries a significant risk for the development of colorectal cancer. Microdeletions of one of the two predisposing genes to JP, BMPR1A, have been associated with a severe form of JP called juvenile polyposis of infancy. Many of these deletions have also been found to contiguously include PTEN, which is the gene responsible for the development of Cowden syndrome. The advent of molecular techniques that localize genomic copy number variations and others that target specific genes such as multiplex-ligation probe analysis has allowed researchers to explore this area further for deletions. Here, we review the literature for microdeletions described on chromosome 10q22–23 in patients with JP and other intestinal polyposis syndromes.