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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| immunohistochemical staining | Diagnostic Test | immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2 | ||
| tests of microsatellite instability | Diagnostic Test | microsatellite instability in tissues of endometrial cancer | ||
| clinical criteria of Lynch syndromes | Diagnostic Test | Amsterdam I or II criteria and Bethesda criteria | ||
| sequencing for mismatch repair genes | Diagnostic Test | next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) |
| Measure | Description | Time Frame |
|---|---|---|
| Distribution of Lynch syndromes in endometrial cancer | Proportions of patients carrying mismatch repair gene in endometrial cancer | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Reliability of immunohistochemical staining for screening Lynch syndromes | Sensitiviy and specitiviy of immunohistochemical staining for screening Lynch syndromes | 2 years |
| Reliability of microsatellite instability for screening Lynch syndromes |
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Inclusion Criteria:
Exclusion Criteria:
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Patiens with definite diagnosis of endometrial cancer, including type I and type II endometrial cancer.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lei Li, MD | Contact | 13911988831 | +86 | lileigh@163.com |
| Name | Affiliation | Role |
|---|---|---|
| Lei Li, MD | Peking Union Medical College Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lei Li | Recruiting | Beijing | China/Beiing | 100000 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31307542 | Derived | Chao X, Li L, Wu M, Ma S, Tan X, Zhong S, Bi Y, Lang J. Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China. Cancer Commun (Lond). 2019 Jul 15;39(1):42. doi: 10.1186/s40880-019-0388-2. |
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Distributions of specific mutation genes of Lynch syndromes will be available for other researches by officially published papers.
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Sensitiviy and specitiviy of microsatellite instability for screening Lynch syndromes
| 2 years |
| Reliability of clinical criteria for screening Lynch syndromes | Sensitiviy and specitiviy of clinical criteria for screening Lynch syndromes | 2 years |
| ID | Term |
|---|---|
| D003123 | Colorectal Neoplasms, Hereditary Nonpolyposis |
| D016889 | Endometrial Neoplasms |
| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D014594 | Uterine Neoplasms |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D014591 | Uterine Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D000091662 | Genital Diseases |
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| ID | Term |
|---|---|
| D001483 | Base Sequence |
| ID | Term |
|---|---|
| D015394 | Molecular Structure |
| D001669 | Biochemical Phenomena |
| D055598 | Chemical Phenomena |
| D040342 | Genetic Structures |
| D055614 | Genetic Phenomena |
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