welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
The Growing Complexity of the Intestinal Polyposis Syndromes
source: American journal of medical genetics
year: 2013
authors: Lucci-Cordisco E, Risio M, Venesio T, Genuardi M
summary/abstract:Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings.
organization: Catholic University RomeDOI: 10.1002/ajmg.a.36253
read more full text source
expertly curated content related to this topic
-
Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
ESMO Consensus Guidelines For Management of Patients with Colon and Rectal Cancer, A Personalized Approach to Clinic...Colorectal Cancer (CRC) is the most comm...
-
Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric CohortOBJECTIVE: To retrospectively assess, i...
-
Familial Adenomatous Polyposis: Clinical Presentation, Detection and SurveillanceColorectal cancer (CRC) is a leading cau...
-
“waiting to get a colonoscopy was my biggest mistake” my familial adenomatous polyposis storyI went to the Mayo Clinic in Rochester, ...
-
Cancer Prevention Pharmaceuticals in Collaboration with the NCI and Vanderbilt University Medical Center Initiates P...Cancer Prevention Pharmaceuticals, Inc. ...
-
MUTYH Associated PolyposisThis summery provides diagnosis criteri...