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Brief Title: Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer
Official Title: Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer
Study ID: NCT03291106
Brief 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.
Detailed Description:
Minimum Age: 18 Years
Eligible Ages: ADULT, OLDER_ADULT
Sex: FEMALE
Healthy Volunteers: No
Lei Li, Beijing, China/Beiing, China
Name: Lei Li, MD
Affiliation: Peking Union Medical College Hospital
Role: PRINCIPAL_INVESTIGATOR