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

Lei Li

Status: Unknown

Conditions: Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms

Treatments: Diagnostic Test: tests of microsatellite instability; Diagnostic Test: clinical criteria of Lynch syndromes; Diagnostic Test: sequencing for mismatch repair genes; Diagnostic Test: immunohistochemical staining

Study type: Observational

Funder types: Other

Identifiers

NCT03291106

EC-LYNCH

Details and patient eligibility

About

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.

Enrollment: 1,500 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Survivals of endometrial cancer

Exclusion criteria

• Metatatic malignacies to uterine
• Leiomyosarcoma of uterus