Hereditary mixed polyposis syndrome due to a BMPR1A mutation

Autor:	J M, O'Riordan, D, O'Donoghue, A, Green, D, Keegan, L A, Hawkes, S J, Payne, K, Sheahan, D C, Winter
Rok vydání:	2009
Předmět:	Adult Male Colonic Polyps Syndrome Pedigree Adenomatous Polyposis Coli Transforming Growth Factor beta Mutation Humans Female Colorectal Neoplasms Bone Morphogenetic Protein Receptors Type I Signal Transduction Smad4 Protein
Zdroj:	Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland. 12(6)
ISSN:	1463-1318
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2a18cf8457080b6d8d31d68d064d7096 https://pubmed.ncbi.nlm.nih.gov/19438883 Zobrazit plný text záznamu Plný text