Journal article
Juvenile Polyposis and Other Intestinal Polyposis Syndromes with Microdeletions of Chromosome 10q22-23
Clinical genetics, Vol.81(2), pp.110-116
02/2012
DOI: 10.1111/j.1399-0004.2011.01763.x
PMCID: PMC3236803
PMID: 21834858
Abstract
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.
Details
- Title: Subtitle
- Juvenile Polyposis and Other Intestinal Polyposis Syndromes with Microdeletions of Chromosome 10q22-23
- Creators
- Fadi S Dahdaleh - University of Iowa Carver College of Medicine, Department of SurgeryJennifer C Carr - University of Iowa Carver College of Medicine, Department of SurgeryDaniel Calva - University of Iowa Carver College of Medicine, Department of SurgeryJames R Howe - University of Iowa Carver College of Medicine, Department of Surgery
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.81(2), pp.110-116
- DOI
- 10.1111/j.1399-0004.2011.01763.x
- PMID
- 21834858
- PMCID
- PMC3236803
- NLM abbreviation
- Clin Genet
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Grant note
- R01 CA136884-01 || CA / National Cancer Institute : NCI
- Language
- English
- Date published
- 02/2012
- Academic Unit
- Surgery
- Record Identifier
- 9984051776702771
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