Linked Life Data

17947814

Source:http://linkedlifedata.com/resource/pubmed/id/17947814

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-10-19
pubmed:abstractText
Our understanding of the mechanisms that lead to colorectal cancer expands each year. Patients with a genetic predisposition to colorectal cancer have significantly increased risks for developing this malignancy over their lifetime. These risks can approach an 80 to nearly 100% likelihood of colorectal malignancy with some of the known cancer predisposition syndromes [Burt and Neklason: Gastroenterology 2005;128:1696-1716 and Rowley: Annu Rev Med 2005;56:539-554]. Although these inherited syndromes have a genetic basis, affected individuals are often initially seen by medical professionals outside the genetics realm. Gastroenterologists in particular have a key role in identifying patients at high risk for an inherited colorectal cancer predisposition syndrome and referring them on for directed genetics evaluation. In this review, we will focus on the presenting features and recommended screening and treatment protocols for six syndromes that predispose to colorectal carcinoma. The underlying genetic basis of each syndrome will be discussed, as well as specific guidelines for patient identification. Familial adenomatous polyposis will be covered first, followed by Lynch syndrome, attenuated familial adenomatous polyposis, MYH-associated polyposis, hereditary mixed polyposis, and hyperplastic polyposis. Other rare syndromes (the hamartomatous polyposis syndromes) will be summarized in table form. Finally, we will give some general guidelines for when to first suspect colorectal cancer syndromes, a summary of family history taking techniques that can be used in the primary care setting and a review of the referral, genetics appointment and postgenetics consultation process. Through this review, we hope to show that the identification of high-risk patients is possible, though sometimes difficult.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1421-9867
pubmed:author
pubmed:copyrightInfo
(c) 2007 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7-19
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Can we identify the high-risk patients to be screened? A genetic approach.
pubmed:affiliation
Department of Medicine, University of Utah, Salt Lake City, UT 84112-5550, USA. amanda.gammon@hci.utah.edu
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural