Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

Journal article

BACKGROUND: Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI) hamartomatous polyposis and an increased risk of GI malignancy. Juvenile polyps also occur in the Cowden (CS), Bannayan-Ruvalcaba-Riley (BRRS) and Gorlin (GS) syndromes. Diagnosing JPS can be problematic because it relies on exclusion of CS, BRRS, and GS. Germline mutations in the PTCH, PTEN and DPC4 (SMAD4) genes can cause GS, CS/BRRS, and JPS, respectively. AIMS: To examine the contribution of mutations ...

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Authors: Woodford-Richens, K; Bevan, S; Churchman, M; Dowling, B; Jones, D

• Publication status: Published
• Journal: Gut
• Volume: 46
• Issue: 5
• Pages: 656-660
• Publication date: 2000-05-01
• DOI: 10.1136/gut.46.5.656
• EISSN: 1468-3288
• ISSN: 0017-5749
• Language: English
• Keywords: Child; Adolescent; Adult; Genetic Testing; Tumor Suppressor Proteins; Aged; Mutation, Missense; Infant; Phosphoric Monoester Hydrolases; Diagnosis, Differential; Genetic Heterogeneity; Female; Phenotype; PTEN Phosphohydrolase; Humans; Genotype; Gene Deletion; Child, Preschool; Codon, Terminator; Germ-Line Mutation; Middle Aged; Male; Adenomatous Polyposis Coli