Document Detail

Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
MedLine Citation:
PMID:  19392654     Owner:  NLM     Status:  MEDLINE    
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.
Richard Edlich; Catherine L Cross; Courtney A Wack; Margot E Chase; K Gubler; William B Long
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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    
University of Virginia Health System, VA, USA.
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MeSH Terms
Adenomatous Polyposis Coli / diagnosis*,  genetics,  psychology,  surgery
Genes, APC
Genetic Testing / psychology
Practice Guidelines as Topic

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

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