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.
Study Type
OBSERVATIONAL
Enrollment
1,500
immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2
microsatellite instability in tissues of endometrial cancer
Amsterdam I or II criteria and Bethesda criteria
next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)
Lei Li
Beijing, China/Beiing, China
RECRUITINGDistribution of Lynch syndromes in endometrial cancer
Proportions of patients carrying mismatch repair gene in endometrial cancer
Time frame: 2 years
Reliability of immunohistochemical staining for screening Lynch syndromes
Sensitiviy and specitiviy of immunohistochemical staining for screening Lynch syndromes
Time frame: 2 years
Reliability of microsatellite instability for screening Lynch syndromes
Sensitiviy and specitiviy of microsatellite instability for screening Lynch syndromes
Time frame: 2 years
Reliability of clinical criteria for screening Lynch syndromes
Sensitiviy and specitiviy of clinical criteria for screening Lynch syndromes
Time frame: 2 years
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