Role of Genomic Imprinting in Cancer Diagnosis

Study Overview
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Brief Summary
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The current research focus for cancer diagonosis is classical genetics, named driving genes. However, not all cancer patients have typical genetic alterations, especially at early stage. In the past dacades, accumulating evidences have revealed that more than 80% diseases are closely related to epigenetic changes. The normally silenced copy of imprinted genes are reactivated at early stage of cancers, and finally proceed to copy number variation. This study will screen for a panel of imprinted genes and build quantitative models to assist the diagnosis of multiple cancers.

Official Title
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Role of Genomic Imprinting in Cancer Diagnosis

Conditions
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Early Diagnosis, Cancer, Biomarker, Genomic Imprinting

Intervention / Treatment
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* Diagnostic Test: In-situ imprinting detection


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients diagnosed with suspicious cancer by ultrasound, CT or endoscope. Biopsy samples available. Male or female patients aged ≥ 18 years. Participants signed informed consent form. Exclusion Criteria: Age under 18 years. Severe cardiovascular diseases. Central nervous system diseases. Mental disorder. Pregnant. Individuals unwilling to sign the IRB-approved consent form and unwilling to follow the protocol to submit the serial urine for test after surgery.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cancer patients<br>The patients receive the surgery according to the indication of surgery. The diagnosis is confirmed by pathology of removed tissue. The result of imprinting detection are used as cancer group. | Diagnostic Test: In-situ imprinting detection<br>* The loss of imprinting (LOI) and copy number variation (CNV) from biopsies will be tested by LiSen in-situ imprinting detection.<br>|
| Benign tumor and other disease patients<br>Patients ruled out the possibility of malignancy according to biopsy pathology are used as negative control. | Diagnostic Test: In-situ imprinting detection<br>* The loss of imprinting (LOI) and copy number variation (CNV) from biopsies will be tested by LiSen in-situ imprinting detection.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sensitivity of imprinting cancer early detection | Number of patients declared positive with the imprinting early detection among the patients suffered from cancer | In the middle of the study, an average of 15 months | 
| Specificity of imprinting cancer early detection | Number of patients declared negative with the imprinting early detection among the patients who are with benign tumors or other diseases | In the middle of the study, an average of 15 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of the sensitivity of the imprinting detection versus cytopathology | Number of patients declared positive with the imprinting early detection versus patients declared positive with the cytopathology | In the middle of the study, an average of 15 months | 
| Comparison of the specificity of the imprinting detection versus cytopathology | Number of patients declared negative with the imprinting early detection versus patients declared negative with the cytopathology | In the middle of the study, an average of 15 months |