Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

Hdl Handle:
http://hdl.handle.net/10147/217662
Title:
Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
Authors:
O'Riordan, J M; O'Donoghue, D; Green, A; Keegan, D; Hawkes, L A; Payne, S J; Sheahan, K; Winter, D C
Affiliation:
The Centre for Colorectal Disease, St Vincents' University Hospital, Elm Park, Dublin, Ireland. jamoriordan@rcsi.ie
Citation:
Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 2010, 12 (6):570-3 Colorectal Dis
Journal:
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
Issue Date:
Jun-2010
URI:
http://hdl.handle.net/10147/217662
DOI:
10.1111/j.1463-1318.2009.01931.x
PubMed ID:
19438883
Abstract:
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.
Language:
en
MeSH:
Adenomatous Polyposis Coli; Adult; Bone Morphogenetic Protein Receptors, Type I; Colonic Polyps; Colorectal Neoplasms; Female; Humans; Male; Mutation; Pedigree; Signal Transduction; Smad4 Protein; Syndrome; Transforming Growth Factor beta
ISSN:
1463-1318
Ethical Approval:
N/A

Full metadata record

DC FieldValue Language
dc.contributor.authorO'Riordan, J M-
dc.contributor.authorO'Donoghue, D-
dc.contributor.authorGreen, A-
dc.contributor.authorKeegan, D-
dc.contributor.authorHawkes, L A-
dc.contributor.authorPayne, S J-
dc.contributor.authorSheahan, K-
dc.contributor.authorWinter, D C-
dc.date.accessioned2012-04-04T11:29:11Z-
dc.date.available2012-04-04T11:29:11Z-
dc.date.issued2010-06-
dc.identifier.citationHereditary mixed polyposis syndrome due to a BMPR1A mutation. 2010, 12 (6):570-3 Colorectal Dis-
dc.identifier.issn1463-1318-
dc.identifier.pmid19438883-
dc.identifier.doi10.1111/j.1463-1318.2009.01931.x-
dc.identifier.urihttp://hdl.handle.net/10147/217662-
dc.description.abstractThe 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.-
dc.language.isoen-
dc.rightsArchived with thanks to Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Irelanden_GB
dc.subject.meshAdenomatous Polyposis Coli-
dc.subject.meshAdult-
dc.subject.meshBone Morphogenetic Protein Receptors, Type I-
dc.subject.meshColonic Polyps-
dc.subject.meshColorectal Neoplasms-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshPedigree-
dc.subject.meshSignal Transduction-
dc.subject.meshSmad4 Protein-
dc.subject.meshSyndrome-
dc.subject.meshTransforming Growth Factor beta-
dc.titleHereditary mixed polyposis syndrome due to a BMPR1A mutation.en_GB
dc.contributor.departmentThe Centre for Colorectal Disease, St Vincents' University Hospital, Elm Park, Dublin, Ireland. jamoriordan@rcsi.ie-
dc.identifier.journalColorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland-
dc.type.qualificationlevelN/Aen
cr.approval.ethicalN/Aen
dc.description.provinceLeinsteren
dc.description.provinceLeinster-

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