Methods and kits for diagnosing and determination of the predisposition for diseases

Abstract

The present invention provides a method and a kit for the purpose of diagnosing a disease or determining the predisposition for a disease by measuring abnormalities in imprinting of a gene or population of genes. The disease that can be diagnosed by the present invention is selected from any disease that is mediated by, or is associated with, a particular gene or combination of genes that are subject to imprinting. According the present invention, the imprinting can be abnormally on or can be abnormally off. In those cases where the particular gene that is being examined is normally imprinted, but in the disease state is abnormally not imprinted, the present invention is designed to detect the “loss of imprinting” (hereinafter “LOI”) thereby indicating that the disease may be present.

1 . A method for detecting the presence of a disease, comprising: 
 obtaining a tissue sample from a subject; and    screening said tissue sample for abnormal imprinting in at least one gene.    
     
     
         2 . The method of    claim 1   , wherein the disease is cancer.  
     
     
         3 . The method of    claim 2   , wherein the cancer is colorectal cancer, esophageal cancer, stomach cancer, leukemia/lymphoma, lung cancer, prostate cancer, uterine cancer, breast cancer, skin cancer, endocrine cancer, urinary cancer, pancreatic cancer, other gastrointestinal cancer, ovarian cancer, cervical cancer, head cancer, neck cancer, or adenomas.  
     
     
         4 . The method of    claim 2   , wherein said cancer is colorectal cancer.  
     
     
         5 . The method of    claim 2   , wherein said at least one gene is IGF2, H19, p57 KIP2 , KvLQT1, TSSC3, TSSC5, or ASCL2.  
     
     
         6 . The method of    claim 2   , wherein said at least one gene is IGF2.  
     
     
         7 . The method of    claim 2   , wherein said tissue sample is cells from blood, colon, colonic mucosa.  
     
     
         8 . The method of    claim 2   , comprising measuring the degree of LOI for at least one gene in said tissue sample.  
     
     
         9 . A method for assessing the risk of contracting cancer, comprising: 
 obtaining a tissue sample from a subject; and    screening said tissue sample for loss of imprinting in at least one gene.    
     
     
         10 . The method of    claim 8   , wherein said cancer is colorectal cancer, esophageal cancer, stomach cancer, leukemia/lymphoma, lung cancer, prostate cancer, uterine cancer, breast cancer, skin cancer, endocrine cancer, urinary cancer, pancreatic cancer, other gastrointestinal cancer, ovarian cancer, cervical cancer, head cancer, neck cancer, or adenomas.  
     
     
         11 . The method of    claim 9   , wherein said cancer is colorectal cancer.  
     
     
         12 . The method of    claim 9   , wherein said at least one gene is IGF2, H19, p57 KIP2 , KvLQT1, TSSC3, TSSC5, or ASCL2.  
     
     
         13 . The method of    claim 9   , wherein said at least one gene is IGF2.