Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
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.
The Centre for Colorectal Disease, St Vincents' University Hospital, Elm Park, Dublin, Ireland. jamoriordan@rcsi.ie
J M
JM
O'Riordan
D
D
O'Donoghue
A
A
Green
D
D
Keegan
L A
LA
Hawkes
S J
SJ
Payne
K
K
Sheahan
D C
DC
Winter
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D003111:Colonic Polyps; D015179:Colorectal Neoplasms / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D015398:Signal Transduction; D051901:Smad4 Protein / Q000235:genetics; D013577:Syndrome; D016212:Transforming Growth Factor beta / Q000502:physiology
D051901:Smad4 Protein; D016212:Transforming Growth Factor beta; D052005:Bone Morphogenetic Protein Receptors, Type I