NCT03291106

Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer

Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 1,500 (estimated)
• Sponsor: Lei Li · Academic / Other
• Sex: Female
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

In patients diagnosed as endometrial cancer by thorough pathologic examinations, Lynch syndromes are screened by (1)immunohistochemical staining (for MLH1, MSH2, MSH6 and PMS2), (2) tests of microsatellite instability and (3) clinical criteria (Amsterdam I or II criteria and Bethesda criteria). For patients with any suspicious discoveries of Lynch syndromes from aforementioned screening methods, a molecular diagnosis with next-generation sequencing for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) is given to confirm Lynch syndromes. For patients of Lynch syndromes and endometrial cancer, relatives of blood lineage are tested by Sanger method or qPCR to find out carriers of mutation genes of Lynch syndromes.

Conditions

• Colorectal Neoplasms, Hereditary Nonpolyposis
• Endometrial Neoplasms

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	immunohistochemical staining	immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2
DIAGNOSTIC_TEST	tests of microsatellite instability	microsatellite instability in tissues of endometrial cancer
DIAGNOSTIC_TEST	clinical criteria of Lynch syndromes	Amsterdam I or II criteria and Bethesda criteria
DIAGNOSTIC_TEST	sequencing for mismatch repair genes	next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)

Timeline

• Start date: 2017-09-01
• Primary completion: 2019-10-01
• Completion: 2020-10-01
• First posted: 2017-09-25
• Last updated: 2018-11-14

Locations

1 site across 1 country: China