Title: Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
Authors: Woodford-Richens, K ×
Bevan, S
Churchman, M
Dowling, B
Jones, D
Norbury, C G
Hodgson, S V
Desai, D
Neale, K
Phillips, R K
Young, J
Leggett, B
Dunlop, M
Rozen, P
Eng, C
Markie, D
Rodriguez-Bigas, M A
Sheridan, E
Iwama, T
Eccles, D
Smith, G T
Kim, J C
Kim, K M
Sampson, J R
Evans, G
Tejpar, Sabine
Bodmer, W F
Tomlinson, I P
Houlston, R S #
Issue Date: May-2000
Series Title: Gut vol:46 issue:5 pages:656-660
Abstract: 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 in PTCH, PTEN, and DPC4 (SMAD4) to JPS. METHODS: Forty seven individuals from 15 families and nine apparently sporadic cases with JPS were screened for germline mutations in DPC4, PTEN, and PTCH. RESULTS: No patient had a mutation in PTEN or PTCH. Five different germline mutations were detected in DPC4; three of these were deletions, one a single base substitution creating a stop codon, and one a missense change. None of these patients had distinguishing clinical features. CONCLUSIONS: Mutations in PTEN and PTCH are unlikely to cause juvenile polyposis in the absence of clinical features indicative of CS, BRRS, or GS. A proportion of JPS patients harbour DPC4 mutations (21% in this study) but there remains uncharacterized genetic heterogeneity in JPS.
ISSN: 0017-5749
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Research in GastroIntestinal Disorders
Molecular Digestive Oncology (+)
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science