Document Detail


Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
MedLine Citation:
PMID:  19392654     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
During the last 25 years, there have been revolutionary advances in the treatment of Familial Adenomatous Polyposis (FAP). The purpose of this article is to describe the pathophysiology, genetic testing, surveillance, surgical interventions, and psychosocial issues. The genetic defect in FAP is germline mutation in the adenomatous polyposis coli (APC) gene. Syndromes once thought to be distinct from FAP are now recognized to be part of the phenotypic spectrum of FAP. Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). FAP is a germline mutation in the APC gene with onset of florid polyposis in childhood and development of colorectal cancer by age 30. Colectomy is advised because of the high risk of developing colorectal cancer. AAPC is a variant of this condition with later age of onset and milder clinical phenotype. However, colectomy is advised once polyposis develops and polyps cannot be managed endoscopically. Despite the unique advances in genetic testing, psychosocial management of these syndromes remains to be a challenging problem.
Authors:
Richard Edlich; Catherine L Cross; Courtney A Wack; Margot E Chase; K Gubler; William B Long
Related Documents :
16973164 - Barth syndrome, a human disorder of cardiolipin metabolism.
22357454 - Lapatinib-induced liver injury characterized by class ii hla and gilbert's syndrome gen...
19382114 - Prenatal features of costello syndrome: ultrasonographic findings and atrial tachycardia.
18222334 - Dermatologic, periodontal, and skeletal manifestations of haim-munk syndrome in two sib...
10912404 - Pregnancy in women with noonan syndrome: report of two cases.
10623944 - Magnetic resonance imaging features of two cases of acquired brown's syndrome.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of environmental pathology, toxicology and oncology : official organ of the International Society for Environmental Toxicology and Cancer     Volume:  28     ISSN:  0731-8898     ISO Abbreviation:  J. Environ. Pathol. Toxicol. Oncol.     Publication Date:  2009  
Date Detail:
Created Date:  2009-04-27     Completed Date:  2009-07-08     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8501420     Medline TA:  J Environ Pathol Toxicol Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  47-52     Citation Subset:  IM    
Affiliation:
University of Virginia Health System, VA, USA. richardedlich@gmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adenomatous Polyposis Coli / diagnosis*,  genetics,  psychology,  surgery
Genes, APC
Genetic Testing / psychology
Humans
Practice Guidelines as Topic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The cyclooxygenase-2 inhibitor etoricoxib is a potent chemopreventive agent of colon carcinogenesis ...
Next Document:  Radioprotective Effects of Aloe Vera Leaf Extract on Swiss Albino Mice against Whole-Body Gamma Irra...