Genetic Testing for Lynch Syndrome in Colorectal Cancer Patients
Author Information
Author(s): Ralph Coates, Marc Williams, Stephanie Melillo, Jim Gudgeon
Primary Institution: Centers for Disease Control and Prevention
Hypothesis
Can screening for Lynch syndrome in newly diagnosed colorectal cancer patients reduce morbidity and mortality in their relatives?
Conclusion
Screening and treatment for colorectal cancer can significantly reduce the risk of developing colorectal cancer in individuals with Lynch syndrome and their relatives.
Supporting Evidence
- Screening for Lynch syndrome can identify individuals at high risk of colorectal cancer.
- About 20 to 65% of individuals with Lynch syndrome develop colorectal cancer during their lifetimes.
- Identifying Lynch syndrome in newly diagnosed patients can prevent many cases of colorectal cancer.
Takeaway
If doctors test people with colorectal cancer for Lynch syndrome, they can help their families avoid getting cancer too.
Methodology
The study involved screening tests on tumor specimens and genetic testing for germ line mutations in mismatch repair genes.
Potential Biases
Potential biases may arise from the variability in screening methods and the lack of consensus on best practices.
Limitations
There are gaps in research on the analytic validity and proficiency testing of the screening methods.
Participant Demographics
Approximately 143,000 individuals diagnosed with colorectal cancer each year, with about 3% having Lynch syndrome.
Digital Object Identifier (DOI)
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