Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Journal article

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European prob...

Expand abstract

Authors: Zhou, X; Woodford-Richens, K; Lehtonen, R; Kurose, K; Aldred, M

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 69
• Issue: 4
• Pages: 704-711
• Publication date: 2001-10-01
• DOI: 10.1086/323703
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Germ-Line Mutation; Abnormalities, Multiple; Hamartoma Syndrome, Multiple; Phenotype; Receptors, Transforming Growth Factor beta; Colonic Neoplasms; DNA Mutational Analysis; Microsatellite Repeats; Receptors, Growth Factor; Syndrome; Genotype; Bone Morphogenetic Protein Receptors, Type I; Loss of Heterozygosity; Protein-Serine-Threonine Kinases; Intestinal Polyps; Humans