[Genetic testing for lynch syndrome in colorectal cancer and family members]

Donato M, Augustovski F, Alfie V, Argento F, Klappenbach R, Pichon-Riviere A, Ciapponi A, Bardach A, Alcaraz A, García Martí S.
Record ID 32018001597
Original Title: Rastreo genético de síndrome de Lynch en cáncer colorectal y familiares
Authors' recommendations: No studies assessing the diagnostic performance or clinical consequences resulting from genetic testing for Lynch syndrome in the general population or in all the patients with colorectal cancer or their family members have been found. Moderate-quality evidence suggests that gene sequencing for Lynch syndrome testing in patients with diagnosed colon or rectal cancer at high risk for this syndrome, as well as sequencing their high-risk family members, show good diagnostic performance. The same evidence suggests that testing family members with any of the repair gene system mutations reduces the incidence of colorectal cancer and overall mortality versus no screening, with subsequent implementation of early or more frequent colonoscopies. There is consensus among clinical practice guidelines and coverage policies on recommending testing (by germline MLH1, MSH2, MSH6, PMS2 and EPCAM gene sequencing) to all those patients with diagnosed colon or rectal cancer showing high microsatellite instability (by PCR) or lack of expression in any of the repair proteins (by immunohistochemistry). However, there are discrepancies about who shall be prescribed with any of these two previous studies. In Argentina, the National Cancer Institute recommends starting with immunohistochemistry in those patients with colorectal cancer at high risk for Lynch syndrome; this should also be carried out in family members at high risk of meeting the modified Amsterdam or Bethesda criteria or who have diagnosed endometrial cancer before 50 years old, to subsequently continue with PCR and finally genetic testing. No economic studies assessing its cost-effectiveness or budget impact in Argentina or any other country in the region have been found.
Project Status: Completed
Year Published: 2021
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Colonic Neoplasms
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: info@iecs.org.ar
Contact Email: info@iecs.org.ar
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
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