Document Detail

Increasing lynch syndrome identification through establishment of a hereditary colorectal cancer registry.
MedLine Citation:
PMID:  23392144     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND: : Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing.
OBJECTIVE: : To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome.
DESIGN: : A retrospective review and cohort comparison of both prospectively collected and retrospective data.
SETTING: : The colorectal surgical clinic at Vanderbilt University Medical Center.
PATIENTS: : All newly diagnosed colorectal cancer patients seen between January 2006 and October 2010.
MAIN OUTCOME MEASURES: : To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period").
RESULTS: : During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006.
LIMITATIONS: : This was a single-institution, retrospective review.
CONCLUSION: : Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.
Duveen Sturgeon; Tonna McCutcheon; Timothy M Geiger; Roberta L Muldoon; Alan J Herline; Paul E Wise
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Diseases of the colon and rectum     Volume:  56     ISSN:  1530-0358     ISO Abbreviation:  Dis. Colon Rectum     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372764     Medline TA:  Dis Colon Rectum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  308-14     Citation Subset:  IM    
1 Division of General Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 2 Section of Colon and Rectal Surgery, Washington University in St Louis School of Medicine, St Louis, Missouri.
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