Journal
COLORECTAL DISEASE
Volume 12, Issue 6, Pages 570-573Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1463-1318.2009.01931.x
Keywords
Juvenile polyposis syndrome; hereditary mixed polyposis syndrome; bone morphogenetic protein receptor; transforming growth factor
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The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.
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