Working Group: Topics
Topic: Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications
EGAPP Recommendation: View Working Group Recommendation
Evidence Report: Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications, Tufts-New England Medical Center Evidence Based Practice Center, Boston, Massachusetts
Supplementary Evidence Report: View Report
Other products: Pending
- Question 1: Does risk assessment and HNPCC mutation testing in patients with newly diagnosed CRC lead to improved outcomes for the patient or family members, or is it useful in medical, personal, or public health decision making? (Over-arching question).
- Question 2a: Assuming a clinical definition of the Lynch Syndrome, what proportion ofpatients has a mismatch repair mutation?
- Question 2b: Assuming a clinical definition of the Lynch Syndrome, what proportion of patients has MSI?
- Question 2c: Assuming a clinical definition of the Lynch Syndrome, what proportion of patients has abnormal protein expression by immunohistochemistry?
- Question 2d: How accurate are various predictors, assuming a genetic definition of the Lynch Syndrome?
- Question 3: What are the harms associated with screening high-risk individuals for HNPCC?
- Question 4: What is known about the analytic (sensitivity, specificity, reproducibility,reliability) and clinical validity of tests that identify HNPCC mutations?
- Question 5: What are the harms associated with screening for high-risk individuals?
- Question 6a: What are the management options for CRC patients who are HNPCC positive?
- Question 6b: Does the identification of HNPCC mutations lead to improved patient outcomes in terms of early detection, mortality/morbidity or management decisions (e.g., counseling, surveillance, treatment, other decision making) by patients and providers?
- Question 7: What are the harms associated with subsequent management options afteridentification of HNPCC mutations in CRC patients?
- Question 8a: What is the efficacy of pre-test genetic counseling for informing familymembers of potential risks and benefits of testing?
- Question 8b: What is the accuracy of HNPCC testing in family members in predicting the risk of CRC?
- Question 8c: Do other factors, such as race/ethnicity, age, gender, or co-morbidities affect the accuracy of the testing?
- Question 9: What are the harms associated with informing/counseling family members or with subsequent testing for HNPCC mutations?
- Question 10a: What are the management options for family members of CRC patients who have a positive HNPCC test?
- Question 10b1: Does the identification of HNPCC mutations lead to improved outcomes in terms of decision making by patients, family members and providers, or public health policy?
- Question 10b2: Does the identification of HNPCC mutations lead to improved outcomes in terms of early detection and mortality/morbidity of patients, family members?
- Question 11: What are the harms associated with subsequent actions or interventions for family members?
Why EGAPP Selected this topic for Review:
Key criteria: Prevalence and severity of colorectal cancer; availability of effective interventions for patients and family members.
Other Considerations: More established test with a larger published literature, and challenges the EGAPP methodology with regard to assessment of family-related outcomes.
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Page last updated: May 15, 2013
Page last reviewed: May 15, 2013
Content Source: OPHG Staff