US2012058486A1PendingUtilityA1

Genetic risk assessment technology for epithelial cancer involving gene-environment interaction between ercc5 and tobacco use

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Individually held — no corporate assignee on recordPriority: Apr 2, 2008Filed: Nov 11, 2011Published: Mar 8, 2012
Est. expiryApr 2, 2028(~1.7 yrs left)· nominal 20-yr term from priority
Inventors:Athanasios I. Zavras
C12Q 1/6886C12Q 2600/156
33
PatentIndex Score
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Claims

Abstract

Methods and compositions for assessing ERCC5 gene expression in view of certain environmental exposures and determining the risk of an individual for developing one or more epithelial cancers are provided.

Claims

exact text as granted — not AI-modified
What is claimed: 
     
         1 . A method of diagnosing epithelial cancer in an individual comprising the steps of:
 obtaining a biological sample from an individual;   detecting whether an ERCC5 variant is present in the biological sample; and   diagnosing the individual with epithelial cancer if the ERCC5 variant is present in the biological sample.   
     
     
         2 . The method of  claim 1 , wherein the biological sample is selected from the group consisting of a fluid sample, a tissue sample and a biopsy sample. 
     
     
         3 . The method of  claim 1 , wherein the biological sample is selected from the group consisting of blood, cheek cells and saliva. 
     
     
         4 . The method of  claim 1 , wherein the epithelial cancer is selected from the group consisting of oral cancer, laryngeal cancer, pharyngeal cancer, esophageal cancer, stomach cancer, lung cancer, cervical cancer, penile cancer, colon cancer and rectal cancer. 
     
     
         5 . The method of  claim 1 , wherein the individual drinks alcohol, smokes tobacco or chews tobacco. 
     
     
         6 . The method of  claim 1 , wherein the ERCC5 variant is an ERCC5 single nucleotide polymorphism. 
     
     
         7 . The method of  claim 6 , wherein the ERCC5 single nucleotide polymorphism comprises SEQ ID NO:1 having a T at position 298. 
     
     
         8 . A method of diagnosing an epithelial premalignancy in an individual comprising the steps of:
 obtaining a biological sample from an individual;   detecting whether an ERCC5 variant is present in the biological sample; and   diagnosing the individual with an epithelial premalignancy if the ERCC5 variant is present in the biological sample.   
     
     
         9 . The method of  claim 8 , wherein the biological sample is selected from the group consisting of a fluid sample, a tissue sample and a biopsy sample. 
     
     
         10 . The method of  claim 8 , wherein the biological sample comprises a sample selected from the group consisting of blood, cheek cells and saliva. 
     
     
         11 . The method of  claim 8 , wherein the epithelial premalignancy is selected from the group consisting of oral premalignancy, laryngeal premalignancy, pharyngeal premalignancy, esophageal premalignancy, stomach premalignancy, lung premalignancy, cervical premalignancy, penile premalignancy, colon premalignancy and rectal premalignancy. 
     
     
         12 . The method of  claim 8 , wherein the individual drinks alcohol, smokes tobacco or chews tobacco. 
     
     
         13 . The method of  claim 8 , wherein the ERCC5 variant is an ERCC5 single nucleotide polymorphism. 
     
     
         14 . The method of  claim 13 , wherein the ERCC5 single nucleotide polymorphism comprises SEQ ID NO:1 having a T at position 298. 
     
     
         15 . A method of identifying an individual at risk for developing an epithelial cancer comprising the steps of:
 obtaining a biological sample from an individual;   detecting whether an ERCC5 variant is present in the biological sample; and   identifying the individual as being at risk for developing epithelial cancer if the ERCC5 variant is present in the biological sample.   
     
     
         16 . The method of  claim 15 , wherein the biological sample is selected from the group consisting of a fluid sample, a tissue sample and a biopsy sample. 
     
     
         17 . The method of  claim 15 , wherein the biological sample comprises a sample selected from the group consisting of blood, cheek cells and saliva. 
     
     
         18 . The method of  claim 15 , wherein the epithelial cancer is selected from the group consisting of oral cancer, laryngeal cancer, pharyngeal cancer, esophageal cancer, stomach cancer, lung cancer, cervical cancer, penile cancer, colon cancer and rectal cancer. 
     
     
         19 . The method of  claim 15 , wherein the individual drinks alcohol, smokes tobacco or chews tobacco. 
     
     
         20 . The method of  claim 15 , wherein the ERCC5 variant is an ERCC5 single nucleotide polymorphism. 
     
     
         21 . The method of  claim 20 , wherein the ERCC5 single nucleotide polymorphism comprises SEQ ID NO:1 having a T at position 298. 
     
     
         22 . A method for prognosing epithelial cancer in an individual comprising the steps of:
 obtaining a biological sample from an individual;   detecting whether an ERCC5 variant is present in the biological sample; and   correlating the presence of an ERCC5 variant with an indication of an unfavorable prognosis.   
     
     
         23 . The method of  claim 22 , wherein the individual drinks alcohol, smokes tobacco or chews tobacco. 
     
     
         24 . The method of  claim 23 , wherein a favorable prognosis is made if an individual ceases smoking tobacco. 
     
     
         25 . The method of  claim 23 , wherein a favorable prognosis is made if an individual ceases chewing tobacco. 
     
     
         26 . The method of  claim 23 , wherein a favorable prognosis is made if an individual ceases drinking alcohol. 
     
     
         27 . The method of  claim 22 , wherein the biological sample is selected from the group consisting of a fluid sample, a tissue sample and a biopsy sample. 
     
     
         28 . The method of  claim 22 , wherein the biological sample comprises a sample selected from the group consisting of blood, cheek cells and saliva. 
     
     
         30 . The method of  claim 22 , wherein the epithelial cancer is selected from the group consisting of oral cancer, laryngeal cancer, pharyngeal cancer, esophageal cancer, stomach cancer, lung cancer, cervical cancer, penile cancer, colon cancer and rectal cancer. 
     
     
         31 . The method of  claim 22 , wherein the ERCC5 variant is an ERCC5 single nucleotide polymorphism. 
     
     
         32 . The method of  claim 31 , wherein the ERCC5 single nucleotide polymorphism comprises SEQ ID NO:1 having a T at position 298. 
     
     
         33 . A method of detecting epithelial cancer in a biological sample comprising the steps of:
 obtaining a biological sample; and   detecting whether an ERCC5 variant is present in the biological sample, wherein the biological sample contains epithelial cancer if the ERCC5 variant is present.   
     
     
         34 . A method of detecting an epithelial premalignancy in biological sample comprising the steps of:
 obtaining a biological sample; and   detecting whether an ERCC5 variant is present in the biological sample, wherein the biological sample contains an epithelial premalignancy if the ERCC5 variant is present.   
     
     
         35 . A method of screening an individual at risk for developing an epithelial cancer comprising the steps of:
 obtaining a biological sample from an individual;   identifying the ERCC5 genotype of the individual;   obtaining tobacco exposure information for the individual; and   determining the individual is at risk for developing an epithelial cancer if the individual has a T at position 298 of SEQ ID NO:1 and if the individual is exposed to tobacco.   
     
     
         36 . An isolated nucleic acid sequence comprising SEQ ID NO:1 having a T at position 298. 
     
     
         37 . A polypeptide encoded by the nucleic acid sequence of  claim 36 .

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