Symptoms and General Pathology

All Conditions

Neoplasms

Digestive System Diseases

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Diseases and Abnormalities at or Before Birth

Nutritional and Metabolic Diseases

Syndrome

Colorectal Neoplasms

Endometrial Neoplasms

Colorectal Neoplasms, Hereditary Nonpolyposis

Uterine Neoplasms

Genital Neoplasms, Female

Urogenital Neoplasms

Uterine Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Rectal Diseases

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

DNA Repair-Deficiency Disorders

Metabolic Diseases

immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2

immunohistochemical staining

microsatellite instability in tissues of endometrial cancer

tests of microsatellite instability

Amsterdam I or II criteria and Bethesda criteria

clinical criteria of Lynch syndromes

next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)

sequencing for mismatch repair genes

Lei Li, MD

Lei L Li, MD

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 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

Distributions of specific mutation genes of Lynch syndromes will be available for other researches by officially published papers.

Proportions of patients carrying mismatch repair gene in endometrial cancer

Sensitiviy and specitiviy of immunohistochemical staining for screening Lynch syndromes

Sensitiviy and specitiviy of microsatellite instability for screening Lynch syndromes

Sensitiviy and specitiviy of clinical criteria for screening Lynch syndromes

Lei Li

Professor

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer	NCT03291106	Colorectal Neop... Endometrial Neo...	immunohistochem... tests of micros... clinical criter... sequencing for ...	18 Years -	Peking Union Medical College Hospital
Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer	NCT03291106	Colorectal Neop... Endometrial Neo...	immunohistochem... tests of micros... clinical criter... sequencing for ...	18 Years -	Peking Union Medical College Hospital

Spots Global Cancer Trial Database for sequencing for mismatch repair genes