Methods and materials for detecting colorectal neoplasm

Abstract

The present invention provides methods and materials related to the detection of colorectal neoplasm-specific markers in or associated with a subject's stool sample. In particular, the present invention provides methods and materials for identifying mammals having a colorectal neoplasm by detecting the presence of exfoliated epithelial markers (e.g., human DNA, tumor associated gene alterations, tumor associated proteins) and blood markers (e.g., homoglobin, serum proteins) in a stool sample obtained from the mammal.

1 . A method for detecting the presence of a colorectal neoplasm in a mammal, said method comprising:
 a) obtaining a stool sample from said mammal;   b) detecting the presence or absence of one or more exfoliated epithelial markers in said stool sample, wherein the presence of one or more exfoliated epithelial markers in said stool sample is indicative of a colorectal neoplasm in said mammal; and   c) detecting the presence or absence of one or more fecal occult blood markers in said stool sample, wherein the presence of said one or more fecal occult blood markers specific for a colorectal neoplasm in said stool sample is indicative of a colorectal neoplasm in said mammal.   
     
     
         2 . The method of  claim 1 , further comprising: d) generating a risk profile using the results of steps b) and c). 
     
     
         3 . The method of  claim 1 , wherein said colorectal neoplasm is premalignant. 
     
     
         4 . The method of  claim 1 , wherein said colorectal neoplasm is malignant. 
     
     
         5 . The method of  claim 1 , wherein said one or more exfoliated epithelial markers specific for a colorectal neoplasm comprises one or more colorectal neoplasm-specific nucleic acid markers. 
     
     
         6 . The method of  claim 5 , wherein said one or more colorectal neoplasm-specific nucleic acid markers is selected from the group consisting of a gene having a point mutation, a gene reflecting microsattelite instability, a gene having aberrant methylation, and long DNA. 
     
     
         7 . The method of  claim 6 , wherein said gene having a point mutation is selected from the group consisting of K-ras, APC, melanoma antigen gene, p53, BRAF, BAT26 and PIK3 CA. 
     
     
         8 . The method of  claim 6 , wherein said gene reflecting microsatellite instability is BAT26. 
     
     
         9 . The method of  claim 6 , wherein said gene having aberrant methylation is selected from the group consisting of bmp-3, bmp-4, SFRP2, vimentin, septin9, ALX4, EYA4, TFPI2, NDRG4, and FOXE1. 
     
     
         10 . The method of  claim 6 , wherein said long DNA wherein said long DNA comprises DNA greater than 250 base pairs in length. 
     
     
         11 . The method of  claim 6 , wherein said long DNA comprises DNA greater than 300 base pairs in length. 
     
     
         12 . The method of  claim 6 , wherein said long DNA comprises DNA greater than 400 base pairs in length. 
     
     
         13 . The method of  claim 6 , wherein said long DNA comprises DNA greater than 500 base pairs in length. 
     
     
         14 . The method of  claim 6 , wherein said long DNA comprises DNA greater than 1000 base pairs in length. 
     
     
         15 . The method of  claim 1 , wherein said one or more fecal occult blood markers specific for a colorectal neoplasm is selected from the group consisting of hemoglobin, alpha-defensin, calprotectin, α1-antitrypsin, albumin, MCM2, transferrin, lactoferrin, and lysozyme. 
     
     
         16 . The method of  claim 1 , wherein said exfoliated epithelial marker specific for colorectal neoplasm is long DNA, and wherein said fecal occult blood marker specific for colorectal neoplasm is hemoglobin. 
     
     
         17 . The method of  claim 1 , wherein said mammal is a human. 
     
     
         18 . A kit for detecting the presence of a colorectal neoplasm in a mammal, said kit comprising 1) reagents useful, sufficient, or necessary for detecting and/or characterizing one or more exfoliated epithelial markers specific for a colorectal neoplasm, and 2) reagents useful, sufficient, or necessary for detecting and/or characterizing one or more fecal occult blood markers specific for a colorectal neoplasm.