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What is the appropriate screening protocol in Lynch syndrome?
A E de Jong1, F M Nagengast, J H Kleibeuker
1The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University Medical Center, Poortgebouw Zuid, 2333 AA, Leiden, The Netherlands.
Familial Cancer
|July 11, 2006
Summary
The current bi-annual colonoscopy surveillance protocol for Lynch syndrome appears appropriate for first-degree relatives. This strategy effectively detects colorectal cancer (CRC) in mutation carriers, even those with adenomas.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Lynch syndrome significantly increases colorectal cancer (CRC) risk in families.
- Current surveillance involves bi-annual colonoscopies from age 20-25.
- Uncertainty exists regarding optimal screening frequency, adenoma surveillance, and second-degree relative screening.
Purpose of the Study:
- To evaluate the effectiveness of annual vs. bi-annual screening in Lynch syndrome patients aged 40-60.
- To determine the need for annual re-examination after adenoma removal.
- To assess the indication for surveillance in second-degree relatives.
Main Methods:
- Utilized data from the Dutch Lynch syndrome registry.
- Included mutation carriers participating in the surveillance program.
- Prospectively collected colonoscopy results from 666 mutation carriers across 110 families.
Main Results:
- Forty-one CRCs were detected; 83% occurred in patients aged 40-60.
- CRC risk was similar for carriers with or without prior adenomas.
- Colorectal cancer developed earlier in children than parents in only 6.8% of parent-child couples.
Conclusions:
- The existing bi-annual colonoscopy surveillance protocol for first-degree Lynch syndrome relatives is appropriate.
- Screening frequency and adenoma findings did not necessitate protocol changes.
- Surveillance of second-degree relatives was not indicated based on findings.